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| Search Keyword: |  Free keyword. Search is performed through SiMPLOD id, mutations, structural annotations, paper abstracts, titles and authors |
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| Explore mutations supported or not supported by publications registered in PubMed |
- Abdalla, E. M., M. Rohrbach, C. Burer, M. Kraenzlin, H. El-Tayeby, M. F. Elbelbesy, A. Nabil and C. Giunta (2015). "Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype." Eur J Pediatr 174(1): 105-112 - DOI - PubMed - Mutations
- Brinckmann, J., Y. Acil, S. Feshchenko, E. Katzer, R. Brenner, A. Kulozik and S. Kugler (1998). "Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C)." Arch Dermatol Res 290(4): 181-186 - DOI - PubMed - Mutations
- Dembure, P. P., J. H. Priest, S. C. Snoddy and L. J. Elsas (1984). "Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI." Am J Hum Genet 36(4): 783-790 - DOI - PubMed - Mutations
- Dembure, P. P., A. R. Janko, J. H. Priest and L. J. Elsas (1987). "Ascorbate regulation of collagen biosynthesis in Ehlers-Danlos syndrome, type VI." Metabolism 36(7): 687-691 - DOI - PubMed - Mutations
- Elsas, L. J., 2nd, R. L. Miller and S. R. Pinnell (1978). "Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid response." J Pediatr 92(3): 378-384 - DOI - PubMed - Mutations
- Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke S, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T. (2019) "Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications." Journal of Medical Genetics, in press - DOI - PubMed - Mutations
- Giunta, C., A. Randolph and B. Steinmann (2005). "Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)." Mol Genet Metab 86(1-2): 269-276 - DOI - PubMed - Mutations
- Giunta, C., A. Randolph, L. I. Al-Gazali, H. G. Brunner, M. E. Kraenzlin and B. Steinmann (2005). "Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA)." Am J Med Genet A 133A(2): 158-164. - DOI - PubMed - Mutations
- Guo, H. F., C. L. Tsai, M. Terajima, X. Tan, P. Banerjee, M. D. Miller, X. Liu, J. Yu, J. Byemerwa, S. Alvarado, T. S. Kaoud, K. N. Dalby, N. Bota-Rabassedas, Y. Chen, M. Yamauchi, J. A. Tainer, G. N. Phillips, Jr. and J. M. Kurie (2018). "Pro-metastatic collagen lysyl hydroxylase dimer assemblies stabilized by Fe(2+)-binding." Nat Commun 9(1): 512 - DOI - PubMed - Mutations
- Ha, V. T., M. K. Marshall, L. J. Elsas, S. R. Pinnell and H. N. Yeowell (1994). "A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene." J Clin Invest 93(4): 1716-1721 - DOI - PubMed - Mutations
- Ha-Vinh, R., Y. Alanay, R. A. Bank, A. B. Campos-Xavier, A. Zankl, A. Superti-Furga and L. Bonafe (2004). "Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2." Am J Med Genet A 131(2): 115-120 - DOI - PubMed - Mutations
- Heikkinen, J., T. Toppinen, H. Yeowell, T. Krieg, B. Steinmann, K. I. Kivirikko and R. Myllyla (1997). "Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome." Am J Hum Genet 60(1): 48-56. - DOI - PubMed - Mutations
- Heikkinen, J., B. Pousi, M. Pope and R. Myllyla (1999). "A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI." Hum Mutat 14(4): 351. - DOI - PubMed - Mutations
- Heikkinen, J., M. Risteli, C. Wang, J. Latvala, M. Rossi, M. Valtavaara and R. Myllyla (2000). "Lysyl hydroxylase 3 is a multifunctional protein possessing collagen glucosyltransferase activity." J Biol Chem 275(46): 36158-36163 - DOI - PubMed - Mutations
- Hyland, J., L. Ala-Kokko, P. Royce, B. Steinmann, K. I. Kivirikko and R. Myllyla (1992). "A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI." Nat Genet 2(3): 228-231 - DOI - PubMed - Mutations
- Hyry, M., J. Lantto and J. Myllyharju (2009). "Missense mutations that cause Bruck syndrome affect enzymatic activity, folding, and oligomerization of lysyl hydroxylase 2." J Biol Chem 284(45): 30917-30924 - DOI - PubMed - Mutations
- Ihme, A., T. Krieg, A. Nerlich, U. Feldmann, J. Rauterberg, R. W. Glanville, G. Edel and P. K. Muller (1984). "Ehlers-Danlos syndrome type VI: collagen type specificity of defective lysyl hydroxylation in various tissues." J Invest Dermatol 83(3): 161-165. - DOI - PubMed - Mutations
- Kariminejad, A., B. Bozorgmehr, A. Khatami, M. H. Kariminejad, C. Giunta and B. Steinmann (2010). "Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge?" Iran J Pediatr 20(3): 358-362 - DOI - PubMed - Mutations
- Miller, R. L., L. J. Elsas and R. E. Priest (1979). "Ascorbate action on normal and mutant human lysyl hydroxylases from cultured dermal fibroblasts." J Invest Dermatol 72(5): 241-247 - DOI - PubMed - Mutations
- Mumm, S., Gottesman, G. S., Wenkert, D., Campeau, P. M., Nenninger, A., Huskey, M., Bijanki, V. N., Veis, D. J., Barnes, A. M., Marini, J. C., Stolina, M., Zhang, F., Mcalister, W. H., Whyte, M. P. (2019). "Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous plod2 mutation." Bone, 115047. - DOI - PubMed - Mutations
- Pajunen, L., M. Suokas, T. Hautala, S. Kellokumpu, B. Tebbe, K. I. Kivirikko and R. Myllyla (1998). "A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI." DNA Cell Biol 17(2): 117-123 - DOI - PubMed - Mutations
- Passoja, K., K. Rautavuoma, L. Ala-Kokko, T. Kosonen and K. I. Kivirikko (1998). "Cloning and characterization of a third human lysyl hydroxylase isoform." Proc Natl Acad Sci U S A 95(18): 10482-10486 - DOI - PubMed - Mutations
- Pirskanen, A., A. M. Kaimio, R. Myllyla and K. I. Kivirikko (1996). "Site-directed mutagenesis of human lysyl hydroxylase expressed in insect cells. Identification of histidine residues and an aspartic acid residue critical for catalytic activity." J Biol Chem 271(16): 9398-9402 - DOI - PubMed - Mutations
- Pousi, B., T. Hautala, J. C. Hyland, J. Schroter, B. Eckes, K. I. Kivirikko and R. Myllyla (1998). "A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene." Hum Mutat 11(1): 55-61 - DOI - PubMed - Mutations
- Pousi, B., J. Heikkinen, J. Schroter, M. Pope and R. Myllyla (2000). "A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI." Mutat Res 432(1-2): 33-37 - DOI - PubMed - Mutations
- Rohrbach, M., A. Vandersteen, U. Yis, G. Serdaroglu, E. Ataman, M. Chopra, S. Garcia, K. Jones, A. Kariminejad, M. Kraenzlin, C. Marcelis, M. Baumgartner and C. Giunta (2011). "Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation." Orphanet J Rare Dis 6: 46 - DOI - PubMed - Mutations
- Royce, P. M. and M. J. Barnes (1985). "Failure of highly purified lysyl hydroxylase to hydroxylate lysyl residues in the non-helical regions of collagen." Biochem J 230(2): 475-480 - DOI - PubMed - Mutations
- Salavoura, K., M. Valari, A. Kolialexi, A. Mavrou and S. Kitsiou (2006). "A case of Ehlers Danlos syndrome type VI." Genet Couns 17(3): 291-294 - DOI - PubMed - Mutations
- Salo, A. M., H. Cox, P. Farndon, C. Moss, H. Grindulis, M. Risteli, S. P. Robins and R. Myllyla (2008). "A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene." Am J Hum Genet 83(4): 495-503 - DOI - PubMed - Mutations
- Scietti, L., A. Chiapparino, F. De Giorgi, M. Fumagalli, L. Khoriauli, S. Nergadze, S. Basu, V. Olieric, L. Cucca, B. Banushi, A. Profumo, E. Giulotto, P. Gissen and F. Forneris (2018). "Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3." Nat Commun 9(1): 3163 - DOI - PubMed - Mutations
- Tosun, A., S. Kurtgoz, S. Dursun and G. Bozkurt (2014). "A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation." Pediatr Neurol 51(4): 566-569. - DOI - PubMed - Mutations
- Vahidnezhad, H., L. Youssefian, et al. (2018). "Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency." Matrix Biol. - DOI - PubMed - Mutations
- van der Slot, A. J., A. M. Zuurmond, A. F. Bardoel, C. Wijmenga, H. E. Pruijs, D. O. Sillence, J. Brinckmann, D. J. Abraham, C. M. Black, N. Verzijl, J. DeGroot, R. Hanemaaijer, J. M. TeKoppele, T. W. Huizinga and R. A. Bank (2003). "Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis." J Biol Chem 278(42): 40967-40972 - DOI - PubMed - Mutations
- Walker, L. C., J. C. Marini, D. K. Grange, J. Filie and H. N. Yeowell (1999). "A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene." Mol Genet Metab 67(1): 74-82 - DOI - PubMed - Mutations
- Walker, L. C., M. A. Overstreet, A. Siddiqui, A. De Paepe, G. Ceylaner, F. Malfait, S. Symoens, P. Atsawasuwan, M. Yamauchi, S. Ceylaner, R. A. Bank and H. N. Yeowell (2005). "A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient." J Invest Dermatol 124(5): 914-918 - DOI - PubMed - Mutations
- Wang, C., H. Luosujarvi, J. Heikkinen, M. Risteli, L. Uitto and R. Myllyla (2002). "The third activity for lysyl hydroxylase 3: galactosylation of hydroxylysyl residues in collagens in vitro." Matrix Biol 21(7): 559-566 - DOI - PubMed - Mutations
- Wang, C., M. Risteli, J. Heikkinen, A. K. Hussa, L. Uitto and R. Myllyla (2002). "Identification of amino acids important for the catalytic activity of the collagen glucosyltransferase associated with the multifunctional lysyl hydroxylase 3 (LH3)." J Biol Chem 277(21): 18568-18573 - DOI - PubMed - Mutations
- Yeowell, H. N. and L. C. Walker (1997). "Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene." Proc Assoc Am Physicians 109(4): 383-396 - DOI - PubMed - Mutations
- Yeowell, H. N., L. C. Walker, B. Farmer, J. Heikkinen and R. Myllyla (2000). "Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family." Hum Mutat 16(1): 90 - DOI - PubMed - Mutations
- Yeowell, H. N. and L. C. Walker (2000). "Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI." Mol Genet Metab 71(1-2): 212-224 - DOI - PubMed - Mutations
- Yis, U., E. Dirik, C. Chambaz, B. Steinmann and C. Giunta (2008). "Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI)." Neuromuscul Disord 18(3): 210-214 - DOI - PubMed - Mutations
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- Lysyl Hydroxylase 1 (human) (gene PLOD1) - Mutations
- Lysyl Hydroxylase 2a/2b (human) (gene PLOD2) - Mutations
- Lysyl Hydroxylase 3 (human) (gene PLOD3) - Mutations
- Lysyl Hydroxylase L230 (mimivirus) (gene L230) - Mutations
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| SiMPLOD ID | Isoenzyme | Mutation | Disease phenotype | CLINVAR | Reference papers | Viewer |
|---|---|---|---|---|---|---|
| SiMPLOD1-35 | Lysyl Hydroxylase 1 (human) | LH1 ARG319END (PLOD1 c.955C>T) |
no disease phenotype information available Pathogenic |
14364 | Hyland et al., 1992Eyre et al., 2002 Giunta et al., 2005 Steinmann et al., 1995 al-Gazali et al., 1997 Royce et al. 1985 |
View |
| SiMPLOD1-66 | Lysyl Hydroxylase 1 (human) | LH1 ASP135THRFS (PLOD1 c.402delA) |
no disease phenotype information available Pathogenic |
288527 | View | |
| SiMPLOD1-67 | Lysyl Hydroxylase 1 (human) | LH1 ASP135VALFS (PLOD1 c.404_423del20) |
no disease phenotype information available Pathogenic |
264119 | View | |
| SiMPLOD1-86 | Lysyl Hydroxylase 1 (human) | LH1 GLN195END (PLOD1 c.583C>T) |
no disease phenotype information available Pathogenic |
450403 | View | |
| SiMPLOD1-204 | Lysyl Hydroxylase 1 (human) | LH1 TRP521END (PLOD1 c.1562G>A) |
Neonatal hypotonia Pathogenic |
374077 | View | |
| SiMPLOD1-13 | Lysyl Hydroxylase 1 (human) | LH1 ALA667THR (PLOD1 c.1999G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Giunta et al., 2005 |
View |
| SiMPLOD1-20 | Lysyl Hydroxylase 1 (human) | LH1 ARG111GLYFS (PLOD1 c.327delG) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
284903 | View | |
| SiMPLOD1-51 | Lysyl Hydroxylase 1 (human) | LH1 ARG670END (PLOD1 c.2008C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
14373 | Yeowell et al., 2000 |
View |
| SiMPLOD1-72 | Lysyl Hydroxylase 1 (human) | LH1 delta368-372 (PLOD1 c.1103_1117del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Yeowell et al., 2000 |
View |
| SiMPLOD1-83 | Lysyl Hydroxylase 1 (human) | LH1 GLN049END (PLOD1 c.145C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Yeowell et al., 2000 |
View |
| SiMPLOD1-84 | Lysyl Hydroxylase 1 (human) | LH1 GLN056END (PLOD1 c.166C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Pathogenic |
520105 | View | |
| SiMPLOD1-87 | Lysyl Hydroxylase 1 (human) | LH1 GLN327END (PLOD1 c.979C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
561087 | Yeowell et al., 2000 |
View |
| SiMPLOD1-88 | Lysyl Hydroxylase 1 (human) | LH1 GLN345END (PLOD1) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Rohrbach et al., 2011 |
View |
| SiMPLOD1-97 | Lysyl Hydroxylase 1 (human) | LH1 GLU532DEL (PLOD1 c.1594_1596del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
14367 | Ha et al., 1994 |
View |
| SiMPLOD1-134 | Lysyl Hydroxylase 1 (human) | LH1 dupl326-585;TYR455THRFS (PLOD1 c.975+975_1755+?dup+c.1362delC) |
Ehlers-Danlos syndrome, cardiovascular phenotype Pathogenic |
NA | Giunta et al., 2005 |
View |
| SiMPLOD1-207 | Lysyl Hydroxylase 1 (human) | LH1 TRP612CYS (PLOD1 c.1836G>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
14372 | Brinckmann et al., 1998 |
View |
| SiMPLOD1-209 | Lysyl Hydroxylase 1 (human) | LH1 TYR511END (PLOD1 c.1533C>G) |
Ehlers-Danlos syndrome, cardiovascular phenotype Pathogenic |
14370 | Walker et al., 1999 Yeowell et al., 2000 Yeowell et al., 1997 Pousi et al., 2000 |
View |
| SiMPLOD1-317 | Lysyl Hydroxylase 1 (human) | LH1 ASN052GLNFS (PLOD1 c.153_154insC) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Heikkinen et al., 1999 |
View |
| SiMPLOD1-319 | Lysyl Hydroxylase 1 (human) | LH1 delta282-325 (PLOD1 c.975+2_975+3insTT) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Pajunen et al., 1998 |
View |
| SiMPLOD1-320 | Lysyl Hydroxylase 1 (human) | LH1 delta367-443 (PLOD1 c.(1097+1_1098-1)_(1328+1_1329-1)del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | View | |
| SiMPLOD1-321 | Lysyl Hydroxylase 1 (human) | LH1 ASP367PROFS (PLOD1 c.1120_1756-1553del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Giunta et al., 2009 |
View |
| SiMPLOD1-324 | Lysyl Hydroxylase 1 (human) | LH1 TYR455THRFS (PLOD1 c.1362delC) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Giunta et al., 2005 Salavoura et al., 2006 |
View |
| SiMPLOD1-325 | Lysyl Hydroxylase 1 (human) | LH1 delta491-550 (PLOD1 c.(1470+1_1471-1)_(1650+1_1651-1)del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | View | |
| SiMPLOD1-326 | Lysyl Hydroxylase 1 (human) | LH1 delta551-585 (PLOD1 c.1651-2A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Rohrbach et al., 2011 Pousi et al., 1998 |
View |
| SiMPLOD1-327 | Lysyl Hydroxylase 1 (human) | LH1 delta586-634 (PLOD1 c.1756-?_1902+?del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Pousi et al., 1998 Hilderink et al., 1995 Krieg et al., 1979 Ihme et al., 1984 |
View |
| SiMPLOD1-328 | Lysyl Hydroxylase 1 (human) | LH1 ASN587ARG;GLY592ALA;PRO597ARGFS (PLOD1 c.[1760_1761delACinsGA; 1775_1788del; 1790C>G]) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Heikkinen et al., 1997 |
View |
| SiMPLOD1-329 | Lysyl Hydroxylase 1 (human) | LH1 PRO622ARGFS (PLOD1 c.1863_1864dup) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Tosun et al., 2014 |
View |
| SiMPLOD1-330 | Lysyl Hydroxylase 1 (human) | LH1 TYR675END (PLOD1 c.2025C>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Abdalla et al., 2015 |
View |
| SiMPLOD1-337 | Lysyl Hydroxylase 1 (human) | LH1 ILE599FS (PLOD1 c.1795delA) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
561086 | View | |
| SiMPLOD1-1183 | Lysyl Hydroxylase 1 (human) | LH1 GLN636END (PLOD1 c.1906C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
659390 | View | |
| SiMPLOD1-1193 | Lysyl Hydroxylase 1 (human) | LH1 GLN339END (PLOD1 c.1015C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
648887 | View | |
| SiMPLOD1-191 | Lysyl Hydroxylase 1 (human) | LH1 THR268THR (PLOD1 c.804C>T) |
no disease phenotype information available Conflicting interpretations of pathogenicity |
264284 | View | |
| SiMPLOD1-200 | Lysyl Hydroxylase 1 (human) | LH1 THR705MET (PLOD1 c.2114C>T) |
no disease phenotype information available Likely pathogenic |
421155 | View | |
| SiMPLOD1-225 | Lysyl Hydroxylase 1 (human) | LH1 VAL643ILE (PLOD1 c.1927G>A) |
no disease phenotype information available Conflicting interpretations of pathogenicity |
263957 | View | |
| SiMPLOD1-914 | Lysyl Hydroxylase 1 (human) | LH1 ARG046CYS (PLOD1 c.136C>T) |
no disease phenotype information available Likely pathogenic |
242450 | View | |
| SiMPLOD1-24 | Lysyl Hydroxylase 1 (human) | LH1 ARG118TRP (PLOD1 c.352C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely pathogenic |
523065 | View | |
| SiMPLOD1-38 | Lysyl Hydroxylase 1 (human) | LH1 ARG394ARG (PLOD1 c.1182G>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
292292 | View | |
| SiMPLOD1-40 | Lysyl Hydroxylase 1 (human) | LH1 ARG441TRP (PLOD1 c.1321C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Conflicting interpretations of pathogenicity |
519563 | View | |
| SiMPLOD1-45 | Lysyl Hydroxylase 1 (human) | LH1 ARG499TRP (PLOD1 c.1495C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
292304 | View | |
| SiMPLOD1-46 | Lysyl Hydroxylase 1 (human) | LH1 ARG512CYS (PLOD1 c.1534C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Conflicting interpretations of pathogenicity |
255801 | View | |
| SiMPLOD1-68 | Lysyl Hydroxylase 1 (human) | LH1 ASP179TYR (PLOD1 c.535G>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Conflicting interpretations of pathogenicity |
459822 | View | |
| SiMPLOD1-107 | Lysyl Hydroxylase 1 (human) | LH1 GLY678ARG (PLOD1 c.2032G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
14366 | Ha et al., 1994 Yeowell et al., 2000 Rohrbach et al., 2011 Miller et al., 1979 Dembure et al., 1984 Dembure et al., 1987 |
View |
| SiMPLOD1-113 | Lysyl Hydroxylase 1 (human) | LH1 HIS325HIS (PLOD1 c.975C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Conflicting interpretations of pathogenicity |
459837 | View | |
| SiMPLOD1-137 | Lysyl Hydroxylase 1 (human) | LH1 ILE606ILE (PLOD1 c.1818C>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
292342 | View | |
| SiMPLOD1-154 | Lysyl Hydroxylase 1 (human) | LH1 LYS476LYS (PLOD1 c.1428G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
292295 | View | |
| SiMPLOD1-174 | Lysyl Hydroxylase 1 (human) | LH1 PRO692LEU (PLOD1 c.2075C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
242449 | View | |
| SiMPLOD1-176 | Lysyl Hydroxylase 1 (human) | LH1 SER101SER (PLOD1 c.303C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
440168 | View | |
| SiMPLOD1-203 | Lysyl Hydroxylase 1 (human) | LH1 TRP446GLY (PLOD1 1336T>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
NA | Walker et al., 2005 Yis et al., 2008 |
View |
| SiMPLOD1-925 | Lysyl Hydroxylase 1 (human) | LH1 GLY341GLY (PLOD1 c.1023C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
576772 | View | |
| SiMPLOD1-29 | Lysyl Hydroxylase 1 (human) | LH1 ARG205HIS (PLOD1 c.614G>A) |
no disease phenotype information available Uncertain significance |
292287 | View | |
| SiMPLOD1-39 | Lysyl Hydroxylase 1 (human) | LH1 ARG410GLN (PLOD1 c.1229G>A) |
no disease phenotype information available Uncertain significance |
423152 | View | |
| SiMPLOD1-49 | Lysyl Hydroxylase 1 (human) | LH1 ARG634ARG (PLOD1 c.1902G>A) |
no disease phenotype information available Uncertain significance |
493021 | View | |
| SiMPLOD1-59 | Lysyl Hydroxylase 1 (human) | LH1 ASN391SER (PLOD1 c.1172A>G) |
no disease phenotype information available Uncertain significance |
292291 | View | |
| SiMPLOD1-89 | Lysyl Hydroxylase 1 (human) | LH1 GLU037LYS (PLOD1 c.109G>A) |
no disease phenotype information available Uncertain significance |
459803 | View | |
| SiMPLOD1-94 | Lysyl Hydroxylase 1 (human) | LH1 GLU216ASP (PLOD1 c.648G>T) |
no disease phenotype information available Uncertain significance |
546306 | View | |
| SiMPLOD1-100 | Lysyl Hydroxylase 1 (human) | LH1 GLU594LYS (PLOD1 c.1780G>A) |
no disease phenotype information available Uncertain significance |
430352 | View | |
| SiMPLOD1-206 | Lysyl Hydroxylase 1 (human) | LH1 TRP612END (PLOD1 c.1836G>A) |
no disease phenotype information available Uncertain significance |
NA | Brinckmann et al., 1998 |
View |
| SiMPLOD1-222 | Lysyl Hydroxylase 1 (human) | LH1 VAL445ALA (PLOD1 c.1334T>C) |
no disease phenotype information available Uncertain significance |
429267 | View | |
| SiMPLOD1-753 | Lysyl Hydroxylase 1 (human) | LH1 PRO258LEU (PLOD1 c.773C>T) |
no disease phenotype information available Uncertain significance |
618834 | View | |
| SiMPLOD1-1148 | Lysyl Hydroxylase 1 (human) | LH1 LYS036DELINSPHESERPROHISGLYGLYHISEND (PLOD1 c.84_105dup) |
no disease phenotype information available Uncertain significance |
592020 | View | |
| SiMPLOD1-1204 | Lysyl Hydroxylase 1 (human) | LH1 MET001DELFS (PLOD1 c.-9_2del) |
no disease phenotype information available Uncertain significance |
422689 | View | |
| SiMPLOD1-1 | Lysyl Hydroxylase 1 (human) | LH1 ALA018THR (PLOD1 c.52G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
459820 | View | |
| SiMPLOD1-2 | Lysyl Hydroxylase 1 (human) | LH1 ALA072SER (PLOD1 c.214G>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520106 | View | |
| SiMPLOD1-5 | Lysyl Hydroxylase 1 (human) | LH1 ALA089SER (PLOD1 c.265G>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
264618 | View | |
| SiMPLOD1-8 | Lysyl Hydroxylase 1 (human) | LH1 ALA161THR (PLOD1 c.481G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529345 | View | |
| SiMPLOD1-10 | Lysyl Hydroxylase 1 (human) | LH1 ALA366VAL (PLOD1 c.1097C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459802 | View | |
| SiMPLOD1-14 | Lysyl Hydroxylase 1 (human) | LH1 ALA691VAL (PLOD1 c.2072C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459819 | View | |
| SiMPLOD1-15 | Lysyl Hydroxylase 1 (human) | LH1 ALA721VAL (PLOD1 c.2162C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
373603 | View | |
| SiMPLOD1-16 | Lysyl Hydroxylase 1 (human) | LH1 ARG042CYS (PLOD1 c.124C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
459806 | View | |
| SiMPLOD1-18 | Lysyl Hydroxylase 1 (human) | LH1 ARG046HIS (PLOD1 c.137G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
440169 | View | |
| SiMPLOD1-19 | Lysyl Hydroxylase 1 (human) | LH1 ARG079TRP (PLOD1 c.235C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292280 | View | |
| SiMPLOD1-23 | Lysyl Hydroxylase 1 (human) | LH1 ARG118GLN (PLOD1 c.353G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520118 | View | |
| SiMPLOD1-25 | Lysyl Hydroxylase 1 (human) | LH1 ARG193ARG (PLOD1 c.579G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459824 | View | |
| SiMPLOD1-26 | Lysyl Hydroxylase 1 (human) | LH1 ARG193ARG (PLOD1 c.577A>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292285 | View | |
| SiMPLOD1-27 | Lysyl Hydroxylase 1 (human) | LH1 ARG193SER (PLOD1 c.579G>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520107 | View | |
| SiMPLOD1-28 | Lysyl Hydroxylase 1 (human) | LH1 ARG203HIS (PLOD1 c.608G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529351 | View | |
| SiMPLOD1-30 | Lysyl Hydroxylase 1 (human) | LH1 ARG259HIS (PLOD1 c.776G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
459826 | View | |
| SiMPLOD1-31 | Lysyl Hydroxylase 1 (human) | LH1 ARG275HIS (PLOD1 c.824G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459830 | View | |
| SiMPLOD1-33 | Lysyl Hydroxylase 1 (human) | LH1 ARG307GLN (PLOD1 c.920G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459835 | View | |
| SiMPLOD1-34 | Lysyl Hydroxylase 1 (human) | LH1 ARG310GLN (PLOD1 c.929G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459836 | View | |
| SiMPLOD1-36 | Lysyl Hydroxylase 1 (human) | LH1 ARG355TRP (PLOD1 c.1063C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459801 | View | |
| SiMPLOD1-41 | Lysyl Hydroxylase 1 (human) | LH1 ARG442HIS (PLOD1 c.1325G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292293 | View | |
| SiMPLOD1-43 | Lysyl Hydroxylase 1 (human) | LH1 ARG463GLN (PLOD1 c.1388G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292294 | View | |
| SiMPLOD1-44 | Lysyl Hydroxylase 1 (human) | LH1 ARG463TRP (PLOD1 c.1387C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
449874 | View | |
| SiMPLOD1-47 | Lysyl Hydroxylase 1 (human) | LH1 ARG588LEU (PLOD1 c.1763G>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529352 | View | |
| SiMPLOD1-50 | Lysyl Hydroxylase 1 (human) | LH1 ARG644CYS (PLOD1 c.1930C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292349 | View | |
| SiMPLOD1-52 | Lysyl Hydroxylase 1 (human) | LH1 ARG684CYS (PLOD1 c.2050C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520101 | View | |
| SiMPLOD1-53 | Lysyl Hydroxylase 1 (human) | LH1 ARG690GLN (PLOD1 c.2069G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292350 | View | |
| SiMPLOD1-54 | Lysyl Hydroxylase 1 (human) | LH1 ARG690VAL (PLOD1 c.2068_2069delCGinsGT) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520113 | View | |
| SiMPLOD1-64 | Lysyl Hydroxylase 1 (human) | LH1 ASN686SER (PLOD1 c.2057A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459818 | View | |
| SiMPLOD1-65 | Lysyl Hydroxylase 1 (human) | LH1 ASP103ASN (PLOD1 c.307G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
432397 | View | |
| SiMPLOD1-71 | Lysyl Hydroxylase 1 (human) | LH1 ASP189_PRO190DEL (PLOD1 c.567_572delCCCGGA) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529342 | View | |
| SiMPLOD1-73 | Lysyl Hydroxylase 1 (human) | LH1 ASP382ALA (PLOD1 c.1145A>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459804 | View | |
| SiMPLOD1-74 | Lysyl Hydroxylase 1 (human) | LH1 ASP382GLY (PLOD1 c.1145A>G) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520114 | View | |
| SiMPLOD1-90 | Lysyl Hydroxylase 1 (human) | LH1 GLU062LYS (PLOD1 c.184G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292279 | View | |
| SiMPLOD1-98 | Lysyl Hydroxylase 1 (human) | LH1 GLU563GLU (PLOD1 c.1689G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459814 | View | |
| SiMPLOD1-103 | Lysyl Hydroxylase 1 (human) | LH1 GLY159SER (PLOD1 c.475G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292282 | View | |
| SiMPLOD1-104 | Lysyl Hydroxylase 1 (human) | LH1 GLY281GLU (PLOD1 c.842G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
520122 | View | |
| SiMPLOD1-105 | Lysyl Hydroxylase 1 (human) | LH1 GLY291SER (PLOD1 c.871G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459833 | View | |
| SiMPLOD1-106 | Lysyl Hydroxylase 1 (human) | LH1 GLY545ARG (PLOD1 c.1633G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292305 | View | |
| SiMPLOD1-116 | Lysyl Hydroxylase 1 (human) | LH1 HIS504ARG (PLOD1 c.1511A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529349 | View | |
| SiMPLOD1-117 | Lysyl Hydroxylase 1 (human) | LH1 HIS515TYR (PLOD1 c.1543C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459810 | View | |
| SiMPLOD1-126 | Lysyl Hydroxylase 1 (human) | LH1 HIS706ARG (PLOD1 c.2117A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
NA | Giunta et al., 2005 |
View |
| SiMPLOD1-130 | Lysyl Hydroxylase 1 (human) | LH1 ILE096PHE (PLOD1 c.286A>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
548516 | View | |
| SiMPLOD1-132 | Lysyl Hydroxylase 1 (human) | LH1 ILE186VAL (PLOD1 c.556A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292284 | View | |
| SiMPLOD1-133 | Lysyl Hydroxylase 1 (human) | LH1 ILE322ASN (PLOD1 c.965T>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529350 | View | |
| SiMPLOD1-138 | Lysyl Hydroxylase 1 (human) | LH1 ILE720ILE (PLOD1 c.2160C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292351 | View | |
| SiMPLOD1-143 | Lysyl Hydroxylase 1 (human) | LH1 LEU105GLN (PLOD1 c.314T>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529347 | View | |
| SiMPLOD1-145 | Lysyl Hydroxylase 1 (human) | LH1 LEU219PRO (PLOD1 c.656T>C) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520109 | View | |
| SiMPLOD1-146 | Lysyl Hydroxylase 1 (human) | LH1 LEU569GLN (PLOD1 c.1706T>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459815 | View | |
| SiMPLOD1-153 | Lysyl Hydroxylase 1 (human) | LH1 LYS476ARG (PLOD1 c.1427A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
498773 | View | |
| SiMPLOD1-155 | Lysyl Hydroxylase 1 (human) | LH1 LYS646ARG (PLOD1 c.1937A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459817 | View | |
| SiMPLOD1-156 | Lysyl Hydroxylase 1 (human) | LH1 MET654LEU (PLOD1 c.1960A>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
426238 | View | |
| SiMPLOD1-159 | Lysyl Hydroxylase 1 (human) | LH1 PRO190PRO (PLOD1 c.570G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459823 | View | |
| SiMPLOD1-162 | Lysyl Hydroxylase 1 (human) | LH1 PRO406ALA (PLOD1 c.1216C>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
520125 | View | |
| SiMPLOD1-163 | Lysyl Hydroxylase 1 (human) | LH1 PRO406SER (PLOD1 c.1216C>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
NA | View | |
| SiMPLOD1-168 | Lysyl Hydroxylase 1 (human) | LH1 PRO553LEU (PLOD1 c.1658C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529353 | View | |
| SiMPLOD1-169 | Lysyl Hydroxylase 1 (human) | LH1 PRO597LEU (PLOD1 c.1790C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292341 | View | |
| SiMPLOD1-172 | Lysyl Hydroxylase 1 (human) | LH1 PRO597SER (PLOD1 c.1789C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529348 | View | |
| SiMPLOD1-173 | Lysyl Hydroxylase 1 (human) | LH1 PRO622LEU (PLOD1 c.1865C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520108 | View | |
| SiMPLOD1-177 | Lysyl Hydroxylase 1 (human) | LH1 SER108LEU (PLOD1 c.323C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520119 | View | |
| SiMPLOD1-178 | Lysyl Hydroxylase 1 (human) | LH1 SER178ARG (PLOD1 c.534C>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459821 | View | |
| SiMPLOD1-183 | Lysyl Hydroxylase 1 (human) | LH1 SER342SER (PLOD1 c.1026C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459800 | View | |
| SiMPLOD1-186 | Lysyl Hydroxylase 1 (human) | LH1 THR032MET (PLOD1 c.95C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
264381 | View | |
| SiMPLOD1-189 | Lysyl Hydroxylase 1 (human) | LH1 THR262ILE (PLOD1 c.785C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459828 | View | |
| SiMPLOD1-193 | Lysyl Hydroxylase 1 (human) | LH1 THR287THR (PLOD1 c.861G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459831 | View | |
| SiMPLOD1-194 | Lysyl Hydroxylase 1 (human) | LH1 THR298MET (PLOD1 c.893C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529344 | View | |
| SiMPLOD1-197 | Lysyl Hydroxylase 1 (human) | LH1 THR550THR (PLOD1 c.1650G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
459812 | View | |
| SiMPLOD1-198 | Lysyl Hydroxylase 1 (human) | LH1 THR562MET (PLOD1 c.1685C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
264138 | View | |
| SiMPLOD1-199 | Lysyl Hydroxylase 1 (human) | LH1 THR562THR (PLOD1 c.1686G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292311 | View | |
| SiMPLOD1-201 | Lysyl Hydroxylase 1 (human) | LH1 TRP419ARG (PLOD1 c.1255T>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
440167 | View | |
| SiMPLOD1-202 | Lysyl Hydroxylase 1 (human) | LH1 TRP419LEUFS (PLOD1) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
NA | Rohrbach et al., 2011 |
View |
| SiMPLOD1-205 | Lysyl Hydroxylase 1 (human) | LH1 TRP557SER (PLOD1 c.1670G>C) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520112 | View | |
| SiMPLOD1-208 | Lysyl Hydroxylase 1 (human) | LH1 TYR142END (PLOD1 426T>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
NA | Yeowell et al., 2000 |
View |
| SiMPLOD1-210 | Lysyl Hydroxylase 1 (human) | LH1 TYR556CYS (PLOD1 c.1667A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
451743 | View | |
| SiMPLOD1-211 | Lysyl Hydroxylase 1 (human) | LH1 VAL030ALA (PLOD1 c.89T>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
292277 | View | |
| SiMPLOD1-212 | Lysyl Hydroxylase 1 (human) | LH1 VAL078PHE (PLOD1 c.232G>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529341 | View | |
| SiMPLOD1-213 | Lysyl Hydroxylase 1 (human) | LH1 VAL218MET (PLOD1 c.652G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
520121 | View | |
| SiMPLOD1-216 | Lysyl Hydroxylase 1 (human) | LH1 VAL238PHE (PLOD1 c.712G>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
529346 | View | |
| SiMPLOD1-217 | Lysyl Hydroxylase 1 (human) | LH1 VAL269MET (PLOD1 c.805G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Uncertain significance |
459829 | View | |
| SiMPLOD1-318 | Lysyl Hydroxylase 1 (human) | LH1 GLN208END (PLOD1 c.622C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
631562 | Abdalla et al., 2015 |
View |
| SiMPLOD1-881 | Lysyl Hydroxylase 1 (human) | LH1 ARG205CYS (PLOD1 c.613C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
634546 | View | |
| SiMPLOD1-919 | Lysyl Hydroxylase 1 (human) | LH1 THR287MET (PLOD1 c.860C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
583256 | View | |
| SiMPLOD1-920 | Lysyl Hydroxylase 1 (human) | LH1 ARG370TRP (PLOD1 c.1108C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
582894 | View | |
| SiMPLOD1-921 | Lysyl Hydroxylase 1 (human) | LH1 GLY365GLY (PLOD1 c.1095C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
580535 | View | |
| SiMPLOD1-922 | Lysyl Hydroxylase 1 (human) | LH1 PRO406SER (PLOD1 c.1216C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
580095 | View | |
| SiMPLOD1-923 | Lysyl Hydroxylase 1 (human) | LH1 LYS316THR (PLOD1 c.947A>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
579966 | View | |
| SiMPLOD1-924 | Lysyl Hydroxylase 1 (human) | LH1 LEU311PHE (PLOD1 c.931C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
579875 | View | |
| SiMPLOD1-926 | Lysyl Hydroxylase 1 (human) | LH1 ARG373CYS (PLOD1 c.1117C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
576427 | View | |
| SiMPLOD1-927 | Lysyl Hydroxylase 1 (human) | LH1 PHE126VAL (PLOD1 c.376T>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
575732 | View | |
| SiMPLOD1-928 | Lysyl Hydroxylase 1 (human) | LH1 ASN595LYS (PLOD1 c.1785C>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
575115 | View | |
| SiMPLOD1-929 | Lysyl Hydroxylase 1 (human) | LH1 PRO190LEU (PLOD1 c.569C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
571946 | View | |
| SiMPLOD1-930 | Lysyl Hydroxylase 1 (human) | LH1 PRO622SER (PLOD1 c.1864C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
568946 | View | |
| SiMPLOD1-931 | Lysyl Hydroxylase 1 (human) | LH1 HIS317ASN (PLOD1 c.949C>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
568260 | View | |
| SiMPLOD1-932 | Lysyl Hydroxylase 1 (human) | LH1 THR624MET (PLOD1 c.1871C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
566540 | View | |
| SiMPLOD1-933 | Lysyl Hydroxylase 1 (human) | LH1 TYR631CYS (PLOD1 c.1892A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
565812 | View | |
| SiMPLOD1-1174 | Lysyl Hydroxylase 1 (human) | LH1 ARG259CYS (PLOD1 c.775C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
626255 | View | |
| SiMPLOD1-1176 | Lysyl Hydroxylase 1 (human) | LH1 SER176GLY (PLOD1 c.526A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
665803 | View | |
| SiMPLOD1-1177 | Lysyl Hydroxylase 1 (human) | LH1 ILE560VAL (PLOD1 c.1678A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
665409 | View | |
| SiMPLOD1-1178 | Lysyl Hydroxylase 1 (human) | LH1 ARG394TRP (PLOD1 c.1180C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
664014 | View | |
| SiMPLOD1-1179 | Lysyl Hydroxylase 1 (human) | LH1 MET494ILE (PLOD1 c.1482G>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
663175 | View | |
| SiMPLOD1-1180 | Lysyl Hydroxylase 1 (human) | LH1 VAL725ILE (PLOD1 c.2173G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
659772 | View | |
| SiMPLOD1-1181 | Lysyl Hydroxylase 1 (human) | LH1 SER416PRO (PLOD1 c.1246T>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
659462 | View | |
| SiMPLOD1-1182 | Lysyl Hydroxylase 1 (human) | LH1 GLU039LYS (PLOD1 c.115G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
659426 | View | |
| SiMPLOD1-1184 | Lysyl Hydroxylase 1 (human) | LH1 MET699VAL (PLOD1 c.2095A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
658162 | View | |
| SiMPLOD1-1185 | Lysyl Hydroxylase 1 (human) | LH1 ARG681TRP (PLOD1 c.2041C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
657874 | View | |
| SiMPLOD1-1186 | Lysyl Hydroxylase 1 (human) | LH1 PHE106DEL (PLOD1 c.315_317del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
657826 | View | |
| SiMPLOD1-1187 | Lysyl Hydroxylase 1 (human) | LH1 ARG136HIS (PLOD1 c.407G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
657436 | View | |
| SiMPLOD1-1188 | Lysyl Hydroxylase 1 (human) | LH1 ARG430CYS (PLOD1 c.1288C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
655595 | View | |
| SiMPLOD1-1189 | Lysyl Hydroxylase 1 (human) | LH1 LEU081VAL (PLOD1 c.241C>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
653085 | View | |
| SiMPLOD1-1190 | Lysyl Hydroxylase 1 (human) | LH1 GLU272LYS (PLOD1 c.814G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
652711 | View | |
| SiMPLOD1-1191 | Lysyl Hydroxylase 1 (human) | LH1 THR550MET (PLOD1 c.1649C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
651980 | View | |
| SiMPLOD1-1192 | Lysyl Hydroxylase 1 (human) | LH1 HIS225ARG (PLOD1 c.674A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
651576 | View | |
| SiMPLOD1-1194 | Lysyl Hydroxylase 1 (human) | LH1 ILE280THR (PLOD1 c.839T>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
647692 | View | |
| SiMPLOD1-1195 | Lysyl Hydroxylase 1 (human) | LH1 ARG610TRP (PLOD1 c.1828C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
647685 | View | |
| SiMPLOD1-1196 | Lysyl Hydroxylase 1 (human) | LH1 HIS700ARG (PLOD1 c.2099A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
647407 | View | |
| SiMPLOD1-1197 | Lysyl Hydroxylase 1 (human) | LH1 ASP234GLU (PLOD1 c.702C>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
647304 | View | |
| SiMPLOD1-1198 | Lysyl Hydroxylase 1 (human) | LH1 TYR450CYS (PLOD1 c.1349A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
645631 | View | |
| SiMPLOD1-1199 | Lysyl Hydroxylase 1 (human) | LH1 GLU170LYS (PLOD1 c.508G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
644789 | View | |
| SiMPLOD1-1200 | Lysyl Hydroxylase 1 (human) | LH1 ARG690END (PLOD1 c.2068C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
644297 | View | |
| SiMPLOD1-1201 | Lysyl Hydroxylase 1 (human) | LH1 VAL292MET (PLOD1 c.874G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
644206 | View | |
| SiMPLOD1-1202 | Lysyl Hydroxylase 1 (human) | LH1 VAL445GLY (PLOD1 c.1334T>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
640601 | View | |
| SiMPLOD1-1203 | Lysyl Hydroxylase 1 (human) | LH1 ARG644FS (PLOD1 c.1930del) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
631563 | View | |
| SiMPLOD1-3 | Lysyl Hydroxylase 1 (human) | LH1 ALA084THR (PLOD1 c.250G>A) |
no disease phenotype information available Benign/Likely benign |
263938 | View | |
| SiMPLOD1-93 | Lysyl Hydroxylase 1 (human) | LH1 GLU170VAL (PLOD1 c.509A>T) |
no disease phenotype information available Benign/Likely benign |
514191 | View | |
| SiMPLOD1-102 | Lysyl Hydroxylase 1 (human) | LH1 GLY059GLY (PLOD1 c.177C>T) |
no disease phenotype information available Benign/Likely benign |
263887 | View | |
| SiMPLOD1-128 | Lysyl Hydroxylase 1 (human) | LH1 HIS708HIS (PLOD1 c.2124T>C) |
no disease phenotype information available Benign/Likely benign |
263886 | View | |
| SiMPLOD1-148 | Lysyl Hydroxylase 1 (human) | LH1 LEU711LEU (PLOD1 c.2133C>G) |
no disease phenotype information available Benign/Likely benign |
263889 | View | |
| SiMPLOD1-150 | Lysyl Hydroxylase 1 (human) | LH1 LYS185ASN (PLOD1 c.555G>T) |
no disease phenotype information available Benign/Likely benign |
263963 | View | |
| SiMPLOD1-196 | Lysyl Hydroxylase 1 (human) | LH1 THR388THR (PLOD1 c.1164C>T) |
no disease phenotype information available Benign/Likely benign |
390574 | View | |
| SiMPLOD1-220 | Lysyl Hydroxylase 1 (human) | LH1 VAL381MET (PLOD1 c.1141G>A) |
no disease phenotype information available Benign/Likely benign |
263885 | View | |
| SiMPLOD1-223 | Lysyl Hydroxylase 1 (human) | LH1 VAL596VAL (PLOD1 c.1788G>T) |
no disease phenotype information available Benign/Likely benign |
263892 | View | |
| SiMPLOD1-12 | Lysyl Hydroxylase 1 (human) | LH1 ALA544ALA (PLOD1 c.1632A>C) |
Ehlers-Danlos syndrome, cardiovascular phenotype Benign/Likely benign |
255802 | View | |
| SiMPLOD1-85 | Lysyl Hydroxylase 1 (human) | LH1 GLN180GLN (PLOD1 c.540G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Benign/Likely benign |
292283 | View | |
| SiMPLOD1-144 | Lysyl Hydroxylase 1 (human) | LH1 LEU188PHE (PLOD1 c.564G>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Benign/Likely benign |
440166 | View | |
| SiMPLOD1-152 | Lysyl Hydroxylase 1 (human) | LH1 LYS185ASN (PLOD1 c.555G>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Benign/Likely benign |
NA | View | |
| SiMPLOD1-11 | Lysyl Hydroxylase 1 (human) | LH1 ALA383ALA (PLOD1 c.1149T>C) |
no disease phenotype information available Likely benign |
392533 | View | |
| SiMPLOD1-91 | Lysyl Hydroxylase 1 (human) | LH1 GLU092GLU (PLOD1 c.276G>A) |
no disease phenotype information available Likely benign |
509164 | View | |
| SiMPLOD1-111 | Lysyl Hydroxylase 1 (human) | LH1 HIS312HIS (PLOD1 c.936C>T) |
no disease phenotype information available Likely benign |
263947 | View | |
| SiMPLOD1-135 | Lysyl Hydroxylase 1 (human) | LH1 ILE487ILE (PLOD1 c.1461C>T) |
no disease phenotype information available Likely benign |
513362 | View | |
| SiMPLOD1-147 | Lysyl Hydroxylase 1 (human) | LH1 LEU569LEU (PLOD1 c.1707G>A) |
no disease phenotype information available Likely benign |
459816 | View | |
| SiMPLOD1-165 | Lysyl Hydroxylase 1 (human) | LH1 PRO406PRO (PLOD1 c.1218G>A) |
no disease phenotype information available Likely benign |
389629 | View | |
| SiMPLOD1-195 | Lysyl Hydroxylase 1 (human) | LH1 THR376THR (PLOD1 c.1128C>T) |
no disease phenotype information available Likely benign |
513128 | View | |
| SiMPLOD1-812 | Lysyl Hydroxylase 1 (human) | LH1 ILE294ILE (PLOD1 c.882C>T) |
no disease phenotype information available Likely benign |
618331 | View | |
| SiMPLOD1-9 | Lysyl Hydroxylase 1 (human) | LH1 ALA361ALA (PLOD1 c.1083C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
520120 | View | |
| SiMPLOD1-21 | Lysyl Hydroxylase 1 (human) | LH1 ARG118ARG (PLOD1 c.354G>C) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520116 | View | |
| SiMPLOD1-37 | Lysyl Hydroxylase 1 (human) | LH1 ARG370ARG (PLOD1 c.1110G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520111 | View | |
| SiMPLOD1-75 | Lysyl Hydroxylase 1 (human) | LH1 ASP384ASP (PLOD1 c.1152C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520124 | View | |
| SiMPLOD1-76 | Lysyl Hydroxylase 1 (human) | LH1 ASP433ASP (PLOD1 c.1299C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
264283 | View | |
| SiMPLOD1-78 | Lysyl Hydroxylase 1 (human) | LH1 ASP491ASP (PLOD1 c.1473T>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
459808 | View | |
| SiMPLOD1-92 | Lysyl Hydroxylase 1 (human) | LH1 GLU112GLU (PLOD1 c.336G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520100 | View | |
| SiMPLOD1-96 | Lysyl Hydroxylase 1 (human) | LH1 GLU528LYS (PLOD1 c.1582G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
459811 | View | |
| SiMPLOD1-112 | Lysyl Hydroxylase 1 (human) | LH1 HIS317HIS (PLOD1 c.951C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529361 | View | |
| SiMPLOD1-120 | Lysyl Hydroxylase 1 (human) | LH1 HIS536HIS (PLOD1 c.1608C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529362 | View | |
| SiMPLOD1-136 | Lysyl Hydroxylase 1 (human) | LH1 ILE606ILE (PLOD1 c.1818C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529364 | View | |
| SiMPLOD1-140 | Lysyl Hydroxylase 1 (human) | LH1 LEU010LEU (PLOD1 c.30G>C) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
264292 | View | |
| SiMPLOD1-141 | Lysyl Hydroxylase 1 (human) | LH1 LEU081LEU (PLOD1 c.243G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529360 | View | |
| SiMPLOD1-142 | Lysyl Hydroxylase 1 (human) | LH1 LEU085PRO (PLOD1 c.254T>C) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
NA | Rohrbach et al., 2011 |
View |
| SiMPLOD1-149 | Lysyl Hydroxylase 1 (human) | LH1 LYS045LYS (PLOD1 c.135G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529356 | View | |
| SiMPLOD1-158 | Lysyl Hydroxylase 1 (human) | LH1 PHE263PHE (PLOD1 c.789C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529359 | View | |
| SiMPLOD1-160 | Lysyl Hydroxylase 1 (human) | LH1 PRO258PRO (PLOD1 c.774G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
459825 | View | |
| SiMPLOD1-161 | Lysyl Hydroxylase 1 (human) | LH1 PRO299PRO (PLOD1 c.897G>A) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
459834 | View | |
| SiMPLOD1-166 | Lysyl Hydroxylase 1 (human) | LH1 PRO527PRO (PLOD1 c.1581C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529357 | View | |
| SiMPLOD1-170 | Lysyl Hydroxylase 1 (human) | LH1 PRO597PRO (PLOD1 c.1791G>C) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520115 | View | |
| SiMPLOD1-175 | Lysyl Hydroxylase 1 (human) | LH1 PRO727PRO (PLOD1 c.2181C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
264177 | View | |
| SiMPLOD1-180 | Lysyl Hydroxylase 1 (human) | LH1 SER178SER (PLOD1 c.534C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520104 | View | |
| SiMPLOD1-181 | Lysyl Hydroxylase 1 (human) | LH1 SER302TYR (PLOD1 c.905C>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529363 | View | |
| SiMPLOD1-184 | Lysyl Hydroxylase 1 (human) | LH1 SER380SER (PLOD1 c.1140C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
264103 | View | |
| SiMPLOD1-185 | Lysyl Hydroxylase 1 (human) | LH1 SER510SER (PLOD1 c.1530C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
459809 | View | |
| SiMPLOD1-187 | Lysyl Hydroxylase 1 (human) | LH1 THR038THR (PLOD1 c.114C>T) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529358 | View | |
| SiMPLOD1-188 | Lysyl Hydroxylase 1 (human) | LH1 THR038THR (PLOD1 c.114C>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
NA | View | |
| SiMPLOD1-215 | Lysyl Hydroxylase 1 (human) | LH1 VAL226VAL (PLOD1 c.678G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Likely benign |
529355 | View | |
| SiMPLOD1-219 | Lysyl Hydroxylase 1 (human) | LH1 VAL290VAL (PLOD1 c.870C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
459832 | View | |
| SiMPLOD1-221 | Lysyl Hydroxylase 1 (human) | LH1 VAL403VAL (PLOD1 c.1209C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520126 | View | |
| SiMPLOD1-226 | Lysyl Hydroxylase 1 (human) | LH1 VAL725VAL (PLOD1 c.2175C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
520110 | View | |
| SiMPLOD1-4 | Lysyl Hydroxylase 1 (human) | LH1 ALA084PRO (PLOD1 c.250G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-17 | Lysyl Hydroxylase 1 (human) | LH1 ARG042SER (PLOD1 c.124C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-22 | Lysyl Hydroxylase 1 (human) | LH1 ARG118ARG (PLOD1 c.354G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-32 | Lysyl Hydroxylase 1 (human) | LH1 ARG275LEU (PLOD1 c.824G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-42 | Lysyl Hydroxylase 1 (human) | LH1 ARG442LEU (PLOD1 c.1325G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-48 | Lysyl Hydroxylase 1 (human) | LH1 ARG588HIS (PLOD1 c.1763G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-69 | Lysyl Hydroxylase 1 (human) | LH1 ASP179ASN (PLOD1 c.535G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-70 | Lysyl Hydroxylase 1 (human) | LH1 ASP179HIS (PLOD1 c.535G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-95 | Lysyl Hydroxylase 1 (human) | LH1 GLU216GLU (PLOD1 c.648G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-99 | Lysyl Hydroxylase 1 (human) | LH1 GLU563ASP (PLOD1 c.1689G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-101 | Lysyl Hydroxylase 1 (human) | LH1 GLU594END (PLOD1 c.1780G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-131 | Lysyl Hydroxylase 1 (human) | LH1 ILE096VAL (PLOD1 c.286A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-139 | Lysyl Hydroxylase 1 (human) | LH1 ILE720ILE (PLOD1 c.2160C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-151 | Lysyl Hydroxylase 1 (human) | LH1 LYS185LYS (PLOD1 c.555G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-167 | Lysyl Hydroxylase 1 (human) | LH1 PRO527PRO (PLOD1 c.1581C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-171 | Lysyl Hydroxylase 1 (human) | LH1 PRO597PRO (PLOD1 c.1791G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-179 | Lysyl Hydroxylase 1 (human) | LH1 SER178ARG (PLOD1 c.534C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-182 | Lysyl Hydroxylase 1 (human) | LH1 SER302PHE (PLOD1 c.905C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-214 | Lysyl Hydroxylase 1 (human) | LH1 VAL218LEU (PLOD1 c.652G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-224 | Lysyl Hydroxylase 1 (human) | LH1 VAL596VAL (PLOD1 c.1788G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-322 | Lysyl Hydroxylase 1 (human) | LH1 TYR434TYR (PLOD1 c.1302C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-323 | Lysyl Hydroxylase 1 (human) | LH1 TYR434END (PLOD1 c.1302C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-339 | Lysyl Hydroxylase 1 (human) | LH1 GLY242GLY (PLOD1 c.726C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-387 | Lysyl Hydroxylase 1 (human) | LH1 VAL642VAL (PLOD1 c.1926C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-413 | Lysyl Hydroxylase 1 (human) | LH1 ARG430HIS (PLOD1 c.1289G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-630 | Lysyl Hydroxylase 1 (human) | LH1 VAL435MET (PLOD1 c.1303G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-714 | Lysyl Hydroxylase 1 (human) | LH1 PRO286SER (PLOD1 c.856C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-715 | Lysyl Hydroxylase 1 (human) | LH1 GLY040END (PLOD1 c.118G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-716 | Lysyl Hydroxylase 1 (human) | LH1 GLY040ARG (PLOD1 c.118G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-717 | Lysyl Hydroxylase 1 (human) | LH1 ARG205LEU (PLOD1 c.614G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-718 | Lysyl Hydroxylase 1 (human) | LH1 ASP189ASP (PLOD1 c.567C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-720 | Lysyl Hydroxylase 1 (human) | LH1 ASN486TYR (PLOD1 c.1456A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-721 | Lysyl Hydroxylase 1 (human) | LH1 CYS267PHE (PLOD1 c.800G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-722 | Lysyl Hydroxylase 1 (human) | LH1 CYS267SER (PLOD1 c.800G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-724 | Lysyl Hydroxylase 1 (human) | LH1 THR713THR (PLOD1 c.2139C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-725 | Lysyl Hydroxylase 1 (human) | LH1 LEU105LEU (PLOD1 c.315G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-726 | Lysyl Hydroxylase 1 (human) | LH1 ARG043CYS (PLOD1 c.127C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-727 | Lysyl Hydroxylase 1 (human) | LH1 ARG043GLY (PLOD1 c.127C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-728 | Lysyl Hydroxylase 1 (human) | LH1 PRO553PRO (PLOD1 c.1659G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-729 | Lysyl Hydroxylase 1 (human) | LH1 GLY412ARG (PLOD1 c.1234G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-730 | Lysyl Hydroxylase 1 (human) | LH1 SER431SER (PLOD1 c.1293C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-731 | Lysyl Hydroxylase 1 (human) | LH1 VAL217ALA (PLOD1 c.650T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-732 | Lysyl Hydroxylase 1 (human) | LH1 SER176SER (PLOD1 c.528C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-733 | Lysyl Hydroxylase 1 (human) | LH1 GLU295LYS (PLOD1 c.883G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-734 | Lysyl Hydroxylase 1 (human) | LH1 ARG703GLN (PLOD1 c.2108G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-735 | Lysyl Hydroxylase 1 (human) | LH1 ARG488GLN (PLOD1 c.1463G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-736 | Lysyl Hydroxylase 1 (human) | LH1 THR246SER (PLOD1 c.736A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-737 | Lysyl Hydroxylase 1 (human) | LH1 ASP726ASN (PLOD1 c.2176G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-738 | Lysyl Hydroxylase 1 (human) | LH1 ALA072ALA (PLOD1 c.216A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-739 | Lysyl Hydroxylase 1 (human) | LH1 ALA621VAL (PLOD1 c.1862C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-740 | Lysyl Hydroxylase 1 (human) | LH1 GLY073GLY (PLOD1 c.219T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-741 | Lysyl Hydroxylase 1 (human) | LH1 ASN595ASN (PLOD1 c.1785C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-742 | Lysyl Hydroxylase 1 (human) | LH1 ARG043ARG (PLOD1 c.129C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-743 | Lysyl Hydroxylase 1 (human) | LH1 ILE535ILE (PLOD1 c.1605C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-744 | Lysyl Hydroxylase 1 (human) | LH1 VAL350ALA (PLOD1 c.1049T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-745 | Lysyl Hydroxylase 1 (human) | LH1 LEU516LEU (PLOD1 c.1546C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-746 | Lysyl Hydroxylase 1 (human) | LH1 ARG488TRP (PLOD1 c.1462C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-747 | Lysyl Hydroxylase 1 (human) | LH1 ILE454VAL (PLOD1 c.1360A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-748 | Lysyl Hydroxylase 1 (human) | LH1 GLN119LYS (PLOD1 c.355C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-750 | Lysyl Hydroxylase 1 (human) | LH1 ALA421SER (PLOD1 c.1261G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-751 | Lysyl Hydroxylase 1 (human) | LH1 TYR378TYR (PLOD1 c.1134C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-752 | Lysyl Hydroxylase 1 (human) | LH1 GLU194ASP (PLOD1 c.582G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-754 | Lysyl Hydroxylase 1 (human) | LH1 SER146SER (PLOD1 c.438C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-755 | Lysyl Hydroxylase 1 (human) | LH1 TYR539HIS (PLOD1 c.1615T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-756 | Lysyl Hydroxylase 1 (human) | LH1 GLY630SER (PLOD1 c.1888G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-757 | Lysyl Hydroxylase 1 (human) | LH1 LEU543LEU (PLOD1 c.1629G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-758 | Lysyl Hydroxylase 1 (human) | LH1 ASN391ASN (PLOD1 c.1173C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-759 | Lysyl Hydroxylase 1 (human) | LH1 ASN391LYS (PLOD1 c.1173C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-760 | Lysyl Hydroxylase 1 (human) | LH1 LEU456VAL (PLOD1 c.1366T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-761 | Lysyl Hydroxylase 1 (human) | LH1 ALA357VAL (PLOD1 c.1070C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-762 | Lysyl Hydroxylase 1 (human) | LH1 ARG442CYS (PLOD1 c.1324C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-763 | Lysyl Hydroxylase 1 (human) | LH1 THR298THR (PLOD1 c.894G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-764 | Lysyl Hydroxylase 1 (human) | LH1 ALA120ALA (PLOD1 c.360C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-765 | Lysyl Hydroxylase 1 (human) | LH1 ARG136CYS (PLOD1 c.406C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-766 | Lysyl Hydroxylase 1 (human) | LH1 GLY074GLY (PLOD1 c.222A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-767 | Lysyl Hydroxylase 1 (human) | LH1 PRO143LEU (PLOD1 c.428C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-768 | Lysyl Hydroxylase 1 (human) | LH1 THR624ARG (PLOD1 c.1871C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-769 | Lysyl Hydroxylase 1 (human) | LH1 PHE304LEU (PLOD1 c.910T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-770 | Lysyl Hydroxylase 1 (human) | LH1 ASN518ASN (PLOD1 c.1554C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-771 | Lysyl Hydroxylase 1 (human) | LH1 ASN518LYS (PLOD1 c.1554C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-772 | Lysyl Hydroxylase 1 (human) | LH1 VAL217VAL (PLOD1 c.651C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-773 | Lysyl Hydroxylase 1 (human) | LH1 GLY672ARG (PLOD1 c.2014G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-774 | Lysyl Hydroxylase 1 (human) | LH1 HIS517ARG (PLOD1 c.1550A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-775 | Lysyl Hydroxylase 1 (human) | LH1 HIS517PRO (PLOD1 c.1550A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-776 | Lysyl Hydroxylase 1 (human) | LH1 ASN526ASN (PLOD1 c.1578C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-777 | Lysyl Hydroxylase 1 (human) | LH1 ASN526LYS (PLOD1 c.1578C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-778 | Lysyl Hydroxylase 1 (human) | LH1 TYR593TYR (PLOD1 c.1779C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-779 | Lysyl Hydroxylase 1 (human) | LH1 GLY279ASP (PLOD1 c.836G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-780 | Lysyl Hydroxylase 1 (human) | LH1 GLY607CYS (PLOD1 c.1819G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-781 | Lysyl Hydroxylase 1 (human) | LH1 GLY607SER (PLOD1 c.1819G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-782 | Lysyl Hydroxylase 1 (human) | LH1 GLY677GLY (PLOD1 c.2031C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-783 | Lysyl Hydroxylase 1 (human) | LH1 ALA228VAL (PLOD1 c.683C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-784 | Lysyl Hydroxylase 1 (human) | LH1 GLU067GLY (PLOD1 c.200A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-785 | Lysyl Hydroxylase 1 (human) | LH1 HIS474TYR (PLOD1 c.1420C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-786 | Lysyl Hydroxylase 1 (human) | LH1 ARG681GLN (PLOD1 c.2042G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-787 | Lysyl Hydroxylase 1 (human) | LH1 ASP282ASP (PLOD1 c.846T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-788 | Lysyl Hydroxylase 1 (human) | LH1 GLU522GLU (PLOD1 c.1566G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-789 | Lysyl Hydroxylase 1 (human) | LH1 TYR377CYS (PLOD1 c.1130A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-790 | Lysyl Hydroxylase 1 (human) | LH1 TYR377SER (PLOD1 c.1130A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-791 | Lysyl Hydroxylase 1 (human) | LH1 ALA057GLU (PLOD1 c.170C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-792 | Lysyl Hydroxylase 1 (human) | LH1 ALA057GLY (PLOD1 c.170C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-793 | Lysyl Hydroxylase 1 (human) | LH1 ALA057VAL (PLOD1 c.170C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-794 | Lysyl Hydroxylase 1 (human) | LH1 PRO406GLN (PLOD1 c.1217C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-795 | Lysyl Hydroxylase 1 (human) | LH1 PRO406LEU (PLOD1 c.1217C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-796 | Lysyl Hydroxylase 1 (human) | LH1 LEU368PRO (PLOD1 c.1103T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-797 | Lysyl Hydroxylase 1 (human) | LH1 ARG150LYS (PLOD1 c.449G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-798 | Lysyl Hydroxylase 1 (human) | LH1 ARG150THR (PLOD1 c.449G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-799 | Lysyl Hydroxylase 1 (human) | LH1 VAL033VAL (PLOD1 c.99G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-800 | Lysyl Hydroxylase 1 (human) | LH1 LYS091ARG (PLOD1 c.272A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-801 | Lysyl Hydroxylase 1 (human) | LH1 THR705THR (PLOD1 c.2115G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-802 | Lysyl Hydroxylase 1 (human) | LH1 ASP519ASN (PLOD1 c.1555G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-803 | Lysyl Hydroxylase 1 (human) | LH1 ARG373SER (PLOD1 c.1117C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-804 | Lysyl Hydroxylase 1 (human) | LH1 ASP103ASP (PLOD1 c.309C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-805 | Lysyl Hydroxylase 1 (human) | LH1 ARG319GLN (PLOD1 c.956G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-806 | Lysyl Hydroxylase 1 (human) | LH1 ARG319LEU (PLOD1 c.956G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-807 | Lysyl Hydroxylase 1 (human) | LH1 GLY591ALA (PLOD1 c.1772G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-808 | Lysyl Hydroxylase 1 (human) | LH1 GLY591ASP (PLOD1 c.1772G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-809 | Lysyl Hydroxylase 1 (human) | LH1 GLY073CYS (PLOD1 c.217G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-810 | Lysyl Hydroxylase 1 (human) | LH1 PRO237LEU (PLOD1 c.710C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-811 | Lysyl Hydroxylase 1 (human) | LH1 ILE666ILE (PLOD1 c.1998C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-813 | Lysyl Hydroxylase 1 (human) | LH1 ASN209ASP (PLOD1 c.625A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-814 | Lysyl Hydroxylase 1 (human) | LH1 LYS316LYS (PLOD1 c.948A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-815 | Lysyl Hydroxylase 1 (human) | LH1 PRO559SER (PLOD1 c.1675C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-816 | Lysyl Hydroxylase 1 (human) | LH1 ARG370GLN (PLOD1 c.1109G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-817 | Lysyl Hydroxylase 1 (human) | LH1 ARG370LEU (PLOD1 c.1109G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-818 | Lysyl Hydroxylase 1 (human) | LH1 ASN243ASN (PLOD1 c.729C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-820 | Lysyl Hydroxylase 1 (human) | LH1 ARG410GLY (PLOD1 c.1228C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-821 | Lysyl Hydroxylase 1 (human) | LH1 ARG410TRP (PLOD1 c.1228C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-822 | Lysyl Hydroxylase 1 (human) | LH1 GLY266ASP (PLOD1 c.797G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-823 | Lysyl Hydroxylase 1 (human) | LH1 LYS278LYS (PLOD1 c.834G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-824 | Lysyl Hydroxylase 1 (human) | LH1 PHE558LEU (PLOD1 c.1672T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-825 | Lysyl Hydroxylase 1 (human) | LH1 HIS602HIS (PLOD1 c.1806C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-826 | Lysyl Hydroxylase 1 (human) | LH1 HIS602GLN (PLOD1 c.1806C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-827 | Lysyl Hydroxylase 1 (human) | LH1 HIS656HIS (PLOD1 c.1968C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-828 | Lysyl Hydroxylase 1 (human) | LH1 LEU520LEU (PLOD1 c.1560C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-829 | Lysyl Hydroxylase 1 (human) | LH1 LYS278ARG (PLOD1 c.833A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-830 | Lysyl Hydroxylase 1 (human) | LH1 LYS278THR (PLOD1 c.833A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-831 | Lysyl Hydroxylase 1 (human) | LH1 VAL671VAL (PLOD1 c.2013C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-832 | Lysyl Hydroxylase 1 (human) | LH1 ASN255SER (PLOD1 c.764A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-833 | Lysyl Hydroxylase 1 (human) | LH1 GLU039GLN (PLOD1 c.115G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-835 | Lysyl Hydroxylase 1 (human) | LH1 THR235ALA (PLOD1 c.703A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-836 | Lysyl Hydroxylase 1 (human) | LH1 ARG203CYS (PLOD1 c.607C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-837 | Lysyl Hydroxylase 1 (human) | LH1 PRO299GLN (PLOD1 c.896C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-838 | Lysyl Hydroxylase 1 (human) | LH1 PRO299LEU (PLOD1 c.896C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-839 | Lysyl Hydroxylase 1 (human) | LH1 TYR685HIS (PLOD1 c.2053T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-840 | Lysyl Hydroxylase 1 (human) | LH1 ASP372GLY (PLOD1 c.1115A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-841 | Lysyl Hydroxylase 1 (human) | LH1 CYS566PHE (PLOD1 c.1697G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-842 | Lysyl Hydroxylase 1 (human) | LH1 CYS566TYR (PLOD1 c.1697G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-843 | Lysyl Hydroxylase 1 (human) | LH1 MET223THR (PLOD1 c.668T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-844 | Lysyl Hydroxylase 1 (human) | LH1 VAL226ALA (PLOD1 c.677T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-845 | Lysyl Hydroxylase 1 (human) | LH1 ASN391ASP (PLOD1 c.1171A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-846 | Lysyl Hydroxylase 1 (human) | LH1 ILE535LEU (PLOD1 c.1603A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-847 | Lysyl Hydroxylase 1 (human) | LH1 ILE535VAL (PLOD1 c.1603A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-848 | Lysyl Hydroxylase 1 (human) | LH1 PRO190ARG (PLOD1 c.569C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-849 | Lysyl Hydroxylase 1 (human) | LH1 LEU471LEU (PLOD1 c.1413C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-850 | Lysyl Hydroxylase 1 (human) | LH1 ALA357ALA (PLOD1 c.1071G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-851 | Lysyl Hydroxylase 1 (human) | LH1 LEU060PRO (PLOD1 c.179T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-852 | Lysyl Hydroxylase 1 (human) | LH1 TYR455CYS (PLOD1 c.1364A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-853 | Lysyl Hydroxylase 1 (human) | LH1 TYR455SER (PLOD1 c.1364A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-854 | Lysyl Hydroxylase 1 (human) | LH1 GLU389LYS (PLOD1 c.1165G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-855 | Lysyl Hydroxylase 1 (human) | LH1 ASP271ASP (PLOD1 c.813C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-856 | Lysyl Hydroxylase 1 (human) | LH1 PHE151ILE (PLOD1 c.451T>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-857 | Lysyl Hydroxylase 1 (human) | LH1 PHE051LEU (PLOD1 c.153C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-858 | Lysyl Hydroxylase 1 (human) | LH1 VAL385MET (PLOD1 c.1153G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-860 | Lysyl Hydroxylase 1 (human) | LH1 ARG307ARG (PLOD1 c.919C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-861 | Lysyl Hydroxylase 1 (human) | LH1 ARG307GLY (PLOD1 c.919C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-862 | Lysyl Hydroxylase 1 (human) | LH1 ARG307TRP (PLOD1 c.919C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-863 | Lysyl Hydroxylase 1 (human) | LH1 LEU285LEU (PLOD1 c.853C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-864 | Lysyl Hydroxylase 1 (human) | LH1 THR714ILE (PLOD1 c.2141C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-865 | Lysyl Hydroxylase 1 (human) | LH1 ARG355GLN (PLOD1 c.1064G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-866 | Lysyl Hydroxylase 1 (human) | LH1 VAL570MET (PLOD1 c.1708G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-868 | Lysyl Hydroxylase 1 (human) | LH1 CYS267ARG (PLOD1 c.799T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-869 | Lysyl Hydroxylase 1 (human) | LH1 PRO479PRO (PLOD1 c.1437C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-870 | Lysyl Hydroxylase 1 (human) | LH1 ARG588CYS (PLOD1 c.1762C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-871 | Lysyl Hydroxylase 1 (human) | LH1 ARG588GLY (PLOD1 c.1762C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-872 | Lysyl Hydroxylase 1 (human) | LH1 ALA366THR (PLOD1 c.1096G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-873 | Lysyl Hydroxylase 1 (human) | LH1 ASP201ASN (PLOD1 c.601G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-874 | Lysyl Hydroxylase 1 (human) | LH1 ARG042HIS (PLOD1 c.125G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-875 | Lysyl Hydroxylase 1 (human) | LH1 GLY679VAL (PLOD1 c.2036G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-876 | Lysyl Hydroxylase 1 (human) | LH1 ASP201ASP (PLOD1 c.603C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-877 | Lysyl Hydroxylase 1 (human) | LH1 LYS626LYS (PLOD1 c.1878G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-878 | Lysyl Hydroxylase 1 (human) | LH1 ASN324SER (PLOD1 c.971A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-879 | Lysyl Hydroxylase 1 (human) | LH1 TYR344CYS (PLOD1 c.1031A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-880 | Lysyl Hydroxylase 1 (human) | LH1 TYR344PHE (PLOD1 c.1031A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-882 | Lysyl Hydroxylase 1 (human) | LH1 ARG205GLY (PLOD1 c.613C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-884 | Lysyl Hydroxylase 1 (human) | LH1 ARG718HIS (PLOD1 c.2153G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-885 | Lysyl Hydroxylase 1 (human) | LH1 TYR455TYR (PLOD1 c.1365C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-886 | Lysyl Hydroxylase 1 (human) | LH1 ALA228ALA (PLOD1 c.684G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-887 | Lysyl Hydroxylase 1 (human) | LH1 GLY678GLY (PLOD1 c.2034G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-888 | Lysyl Hydroxylase 1 (human) | LH1 VAL725ILE (PLOD1 c.2173G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-890 | Lysyl Hydroxylase 1 (human) | LH1 VAL725PHE (PLOD1 c.2173G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-891 | Lysyl Hydroxylase 1 (human) | LH1 ARG137ARG (PLOD1 c.411G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-892 | Lysyl Hydroxylase 1 (human) | LH1 ARG137SER (PLOD1 c.411G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-893 | Lysyl Hydroxylase 1 (human) | LH1 GLU326GLU (PLOD1 c.978G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-894 | Lysyl Hydroxylase 1 (human) | LH1 GLU326ASP (PLOD1 c.978G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-895 | Lysyl Hydroxylase 1 (human) | LH1 ARG610GLN (PLOD1 c.1829G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-896 | Lysyl Hydroxylase 1 (human) | LH1 VAL596MET (PLOD1 c.1786G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-897 | Lysyl Hydroxylase 1 (human) | LH1 PRO237PRO (PLOD1 c.711G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-898 | Lysyl Hydroxylase 1 (human) | LH1 THR035ALA (PLOD1 c.103A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-900 | Lysyl Hydroxylase 1 (human) | LH1 ILE158VAL (PLOD1 c.472A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-901 | Lysyl Hydroxylase 1 (human) | LH1 HIS329TYR (PLOD1 c.985C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-902 | Lysyl Hydroxylase 1 (human) | LH1 HIS515HIS (PLOD1 c.1545C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-903 | Lysyl Hydroxylase 1 (human) | LH1 PRO286PRO (PLOD1 c.858C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-904 | Lysyl Hydroxylase 1 (human) | LH1 MET494VAL (PLOD1 c.1480A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-905 | Lysyl Hydroxylase 1 (human) | LH1 ASN065TYR (PLOD1 c.193A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-906 | Lysyl Hydroxylase 1 (human) | LH1 TYR427TYR (PLOD1 c.1281C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-909 | Lysyl Hydroxylase 1 (human) | LH1 MET699VAL (PLOD1 c.2095A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-911 | Lysyl Hydroxylase 1 (human) | LH1 VAL104MET (PLOD1 c.310G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-912 | Lysyl Hydroxylase 1 (human) | LH1 ARG111GLN (PLOD1 c.332G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-913 | Lysyl Hydroxylase 1 (human) | LH1 ARG043HIS (PLOD1 c.128G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-915 | Lysyl Hydroxylase 1 (human) | LH1 SER416LEU (PLOD1 c.1247C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-916 | Lysyl Hydroxylase 1 (human) | LH1 GLY059ALA (PLOD1 c.176G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-917 | Lysyl Hydroxylase 1 (human) | LH1 GLU067ASP (PLOD1 c.201G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-918 | Lysyl Hydroxylase 1 (human) | LH1 ALA089ALA (PLOD1 c.267A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-1155 | Lysyl Hydroxylase 1 (human) | LH1 GLN399END (PLOD1 c.1195C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-1156 | Lysyl Hydroxylase 1 (human) | LH1 TYR628END (PLOD1 c.1884C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-1157 | Lysyl Hydroxylase 1 (human) | LH1 VAL445_TRP446INSEND (PLOD1 c.1338delG) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-1158 | Lysyl Hydroxylase 1 (human) | LH1 GLU549END (PLOD1 c.1645G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD1-6 | Lysyl Hydroxylase 1 (human) | LH1 ALA099THR (PLOD1 c.295G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Benign |
196247 | Yip et al., 2011 |
View |
| SiMPLOD1-7 | Lysyl Hydroxylase 1 (human) | LH1 ALA120SER (PLOD1 c.358G>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Benign |
255804 | View | |
| SiMPLOD1-60 | Lysyl Hydroxylase 1 (human) | LH1 ASN402ASN (PLOD1 c.1206C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Benign |
255799 | Yip et al., 2011 |
View |
| SiMPLOD1-61 | Lysyl Hydroxylase 1 (human) | LH1 ASN402LYS (PLOD1 c.1206C>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Benign |
NA | Yip et al., 2011 |
View |
| SiMPLOD1-157 | Lysyl Hydroxylase 1 (human) | LH1 PHE098PHE (PLOD1 c.294C>T) |
Ehlers-Danlos syndrome, cardiovascular phenotype Benign |
255803 | Yip et al., 2011 |
View |
| SiMPLOD1-190 | Lysyl Hydroxylase 1 (human) | LH1 THR268ALA (PLOD1 c.802A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Benign |
440170 | View | |
| SiMPLOD1-55 | Lysyl Hydroxylase 1 (human) | LH1 ARG715ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Passoja et al., 1998 |
View |
| SiMPLOD1-56 | Lysyl Hydroxylase 1 (human) | LH1 ARG718ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Passoja et al., 1998 |
View |
| SiMPLOD1-57 | Lysyl Hydroxylase 1 (human) | LH1 ASN163GLN (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-58 | Lysyl Hydroxylase 1 (human) | LH1 ASN197GLN (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-62 | Lysyl Hydroxylase 1 (human) | LH1 ASN538GLN (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-63 | Lysyl Hydroxylase 1 (human) | LH1 ASN686SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-77 | Lysyl Hydroxylase 1 (human) | LH1 ASP491ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-79 | Lysyl Hydroxylase 1 (human) | LH1 ASP638ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-80 | Lysyl Hydroxylase 1 (human) | LH1 ASP674ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-81 | Lysyl Hydroxylase 1 (human) | LH1 ASP648ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-82 | Lysyl Hydroxylase 1 (human) | LH1 ASP658ALA (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-108 | Lysyl Hydroxylase 1 (human) | LH1 HIS088SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-109 | Lysyl Hydroxylase 1 (human) | LH1 HIS225SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-110 | Lysyl Hydroxylase 1 (human) | LH1 HIS241SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-115 | Lysyl Hydroxylase 1 (human) | LH1 HIS474SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-119 | Lysyl Hydroxylase 1 (human) | LH1 HIS517SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-121 | Lysyl Hydroxylase 1 (human) | LH1 HIS536SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-122 | Lysyl Hydroxylase 1 (human) | LH1 HIS613SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-123 | Lysyl Hydroxylase 1 (human) | LH1 HIS656SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-124 | Lysyl Hydroxylase 1 (human) | LH1 HIS657SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-125 | Lysyl Hydroxylase 1 (human) | LH1 HIS700SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-127 | Lysyl Hydroxylase 1 (human) | LH1 HIS706SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD1-129 | Lysyl Hydroxylase 1 (human) | LH1 HIS708SER (PLOD1) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Pirskanen et al., 1996 |
View |
| SiMPLOD2-228 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG380CYS (LH2a) - ARG380CYS (LH2b) (PLOD2 c.1138C>T) |
Bruck Syndrome (Type II)
Pathogenic |
NA | Lv et al., 2018 |
View |
| SiMPLOD2-229 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG598HIS (LH2a) - ARG619HIS (LH2b) (PLOD2 c.1793G>A) |
Bruck Syndrome (Type II)
Pathogenic |
7643 | Ha-Vinh et al., 2004 Hyry et al., 2009 Puig-Hervas et al., 2012 |
View |
| SiMPLOD2-236 | Lysyl Hydroxylase 2a/2b (human) | LH2a CYS385ARG (LH2a) - CYS385ARG (LH2b) (PLOD2 c.1153T>C) |
Bruck Syndrome (Type II)
Pathogenic |
NA | Lv et al., 2018 |
View |
| SiMPLOD2-241 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLY601VAL (LH2a) - GLY622VAL (LH2b) (PLOD2 c.1802G>T) |
Bruck Syndrome (Type II)
Pathogenic |
7642 | van der Slot et al., 2003 |
View |
| SiMPLOD2-242 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLY640ASP (LH2a) - GLY661ASP (LH2b) (PLOD2 c.1919G>A) |
Bruck Syndrome (Type II)
Pathogenic |
NA | Lv et al., 2018 |
View |
| SiMPLOD2-253 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR608ILE (LH2a) - THR629ILE (LH2b) (PLOD2 c.1823C>T) |
Bruck Syndrome (Type II)
Pathogenic |
7641 | van der Slot et al., 2003 Hyry et al., 2009 Puig-Hervas et al., 2012 Leal et al., 2018 Breslau-Siderius et al., 1998 |
View |
| SiMPLOD2-955 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLY266VAL (LH2a) - GLY266VAL (LH2b) (PLOD2 c.797G>T) |
Bruck Syndrome (Type II)
Pathogenic |
NA | Mumm et al., 2019 |
View |
| SiMPLOD2-248 | Lysyl Hydroxylase 2a/2b (human) | LH2a PHE629SER (LH2a) - PHE650SER (LH2b) (PLOD2 c.1886T>C) |
no disease phenotype information available Likely pathogenic |
391826 | View | |
| SiMPLOD2-230 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG659END (LH2a) - ARG680END (LH2b) (PLOD2 c.1975C>T) |
Cleft of soft palate Pathogenic/Likely pathogenic |
374012 | Lv et al., 2018 |
View |
| SiMPLOD2-239 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLY454VAL (LH2a) - GLY454VAL (LH2b) (PLOD2 c.1361G>T) |
Cleft of soft palate Likely pathogenic |
374011 | View | |
| SiMPLOD2-250 | Lysyl Hydroxylase 2a/2b (human) | LH2a SER166END (LH2a) - SER166END (LH2b) (PLOD2 c.497C>G) |
Moderate Osteogenesis Imperfecta - Bruck Syndrome (Type II)
Likely pathogenic |
NA | Leal et al., 2018 |
View |
| SiMPLOD2-227 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG178HIS (LH2a) - ARG178HIS (LH2b) (PLOD2 c.533G>A) |
no disease phenotype information available Uncertain significance |
343649 | View | |
| SiMPLOD2-234 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP348TYR (LH2a) - ASP348TYR (LH2b) (PLOD2 c.1042G>T) |
no disease phenotype information available Uncertain significance |
499451 | View | |
| SiMPLOD2-249 | Lysyl Hydroxylase 2a/2b (human) | LH2a PRO312THR (LH2a) - PRO312THR (LH2b) (PLOD2 c.934C>A) |
no disease phenotype information available Uncertain significance |
291041 | View | |
| SiMPLOD2-251 | Lysyl Hydroxylase 2a/2b (human) | LH2a SER272LEU (LH2a) - SER272LEU (LH2b) (PLOD2 c.815C>T) |
no disease phenotype information available Uncertain significance |
291030 | View | |
| SiMPLOD2-252 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR196ILE (LH2a) - THR196ILE (LH2b) (PLOD2 c.587C>T) |
no disease phenotype information available Uncertain significance |
493376 | View | |
| SiMPLOD2-256 | Lysyl Hydroxylase 2a/2b (human) | LH2a TYR526HIS (LH2a) - TYR547HIS (LH2b) (PLOD2 c.1576T>C) |
no disease phenotype information available Uncertain significance |
194570 | View | |
| SiMPLOD2-1149 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLY002GLY (LH2a) - GLY002GLY (LH2b) (PLOD2 c.6G>C) |
no disease phenotype information available Uncertain significance |
597594 | View | |
| SiMPLOD2-231 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASN267LYS (LH2a) - ASN267LYS (LH2b) (PLOD2 c.801C>A) |
Bruck Syndrome (Type II)
Uncertain significance |
545697 | View | |
| SiMPLOD2-233 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP102GLU (LH2a) - ASP102GLU (LH2b) (PLOD2 c.306T>A) |
Bruck Syndrome (Type II)
Uncertain significance |
343652 | View | |
| SiMPLOD2-237 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLN532ARG (LH2a) - GLN553ARG (LH2b) (PLOD2 c.1595A>G) |
Bruck Syndrome (Type II)
Uncertain significance |
343646 | View | |
| SiMPLOD2-245 | Lysyl Hydroxylase 2a/2b (human) | LH2a ILE557VAL (LH2a) - ILE578VAL (LH2b) (PLOD2 c.1669A>G) |
Bruck Syndrome (Type II)
Uncertain significance |
343645 | View | |
| SiMPLOD2-246 | Lysyl Hydroxylase 2a/2b (human) | LH2a LYS128GLU (LH2a) - LYS128GLU (LH2b) (PLOD2 c.382A>G) |
Bruck Syndrome (Type II)
Uncertain significance |
343651 | View | |
| SiMPLOD2-247 | Lysyl Hydroxylase 2a/2b (human) | LH2a LYS486ARG (LH2a) - LYS486ARG (LH2b) (PLOD2 c.1457A>G) |
Bruck Syndrome (Type II)
Uncertain significance |
343647 | View | |
| SiMPLOD2-257 | Lysyl Hydroxylase 2a/2b (human) | LH2a VAL157VAL (LH2a) - VAL157VAL (LH2b) (PLOD2 c.471G>A) |
Bruck Syndrome (Type II)
Uncertain significance |
343650 | View | |
| SiMPLOD2-1161 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG473END (LH2a) - ARG473END (LH2b) (PLOD2 c.1417C>T) |
Bruck Syndrome (Type II)
Uncertain significance |
632404 | View | |
| SiMPLOD2-232 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASN527ASN (LH2a) - ASN548ASN (LH2b) (PLOD2 c.1581C>T) |
no disease phenotype information available Likely benign |
497279 | View | |
| SiMPLOD2-238 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLU370LYS (LH2a) - GLU370LYS (LH2b) (PLOD2 c.1108G>A) |
no disease phenotype information available Likely benign |
512915 | View | |
| SiMPLOD2-258 | Lysyl Hydroxylase 2a/2b (human) | LH2a VAL653VAL (LH2a) - VAL674VAL (LH2b) (PLOD2 c.1959A>T) |
no disease phenotype information available Likely benign |
513842 | View | |
| SiMPLOD2-244 | Lysyl Hydroxylase 2a/2b (human) | LH2a ILE218VAL (LH2a) - ILE218VAL (LH2b) (PLOD2 c.652A>G) |
no disease phenotype information available Benign |
281238 | View | |
| SiMPLOD2-934 | Lysyl Hydroxylase 2a/2b (human) | LH2a TYR460TYR (LH2a) - TYR460TYR (LH2b) (PLOD2 c.1380T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-935 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR308SER (LH2a) - THR308SER (LH2b) (PLOD2 c.922A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-936 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLY087ASP (LH2a) - GLY087ASP (LH2b) (PLOD2 c.260G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-937 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLY087VAL (LH2a) - GLY087VAL (LH2b) (PLOD2 c.260G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-938 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU493HIS (LH2a) - LEU493HIS (LH2b) (PLOD2 c.1478T>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-939 | Lysyl Hydroxylase 2a/2b (human) | LH2a VAL681LEU (LH2a) - VAL702LEU (LH2b) (PLOD2 c.2041G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-940 | Lysyl Hydroxylase 2a/2b (human) | LH2a VAL681MET (LH2a) - VAL702MET (LH2b) (PLOD2 c.2041G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-941 | Lysyl Hydroxylase 2a/2b (human) | LH2a PRO312ARG (LH2a) - PRO312ARG (LH2b) (PLOD2 c.935C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-942 | Lysyl Hydroxylase 2a/2b (human) | LH2a PRO312LEU (LH2a) - PRO312LEU (LH2b) (PLOD2 c.935C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-943 | Lysyl Hydroxylase 2a/2b (human) | LH2a TYR268CYS (LH2a) - TYR268CYS (LH2b) (PLOD2 c.803A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-944 | Lysyl Hydroxylase 2a/2b (human) | LH2a TYR268SER (LH2a) - TYR268SER (LH2b) (PLOD2 c.803A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-945 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP141TYR (LH2a) - ASP141TYR (LH2b) (PLOD2 c.421G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-946 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASN528SER (LH2a) - ASN549SER (LH2b) (PLOD2 c.1583A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-947 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG440GLY (LH2a) - ARG440GLY (LH2b) (PLOD2 c.1318C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-948 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG440END (LH2a) - ARG440END (LH2b) (PLOD2 c.1318C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-949 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU678LEU (LH2a) - LEU699LEU (LH2b) (PLOD2 c.2034T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-950 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU069PHE (LH2a) - LEU069PHE (LH2b) (PLOD2 c.205C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-951 | Lysyl Hydroxylase 2a/2b (human) | LH2a HIS339HIS (LH2a) - HIS339HIS (LH2b) (PLOD2 c.1017T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-952 | Lysyl Hydroxylase 2a/2b (human) | LH2a MET613VAL (LH2a) - MET634VAL (LH2b) (PLOD2 c.1837A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-953 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG703GLN (LH2a) - ARG724GLN (LH2b) (PLOD2 c.2108G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-954 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU397TRP (LH2a) - LEU397TRP (LH2b) (PLOD2 c.1190T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-956 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG162CYS (LH2a) - ARG162CYS (LH2b) (PLOD2 c.484C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-958 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASN399ASP (LH2a) - ASN399ASP (LH2b) (PLOD2 c.1195A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-959 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR005LYS (LH2a) - THR005LYS (LH2b) (PLOD2 c.14C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-960 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR005MET (LH2a) - THR005MET (LH2b) (PLOD2 c.14C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-961 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP288ASN (LH2a) - ASP288ASN (LH2b) (PLOD2 c.862G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-962 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP288HIS (LH2a) - ASP288HIS (LH2b) (PLOD2 c.862G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-963 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP348GLY (LH2a) - ASP348GLY (LH2b) (PLOD2 c.1043A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-964 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLU511LYS (LH2a) - GLU532LYS (LH2b) (PLOD2 c.1531G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-965 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU721VAL (LH2a) - LEU742VAL (LH2b) (PLOD2 c.2161C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-966 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU579LEU (LH2a) - LEU600LEU (LH2b) (PLOD2 c.1735T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-967 | Lysyl Hydroxylase 2a/2b (human) | LH2a PHE503PHE (LH2a) - PHE524PHE (LH2b) (PLOD2 c.1509T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-968 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG162HIS (LH2a) - ARG162HIS (LH2b) (PLOD2 c.485G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-969 | Lysyl Hydroxylase 2a/2b (human) | LH2a LYS724GLU (LH2a) - LYS745GLU (LH2b) (PLOD2 c.2170A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-970 | Lysyl Hydroxylase 2a/2b (human) | LH2a HIS295TYR (LH2a) - HIS295TYR (LH2b) (PLOD2 c.883C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-971 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASN457ASP (LH2a) - ASN457ASP (LH2b) (PLOD2 c.1369A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-972 | Lysyl Hydroxylase 2a/2b (human) | LH2a ILE042VAL (LH2a) - ILE042VAL (LH2b) (PLOD2 c.124A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-973 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASN410LYS (LH2a) - ASN410LYS (LH2b) (PLOD2 c.1230C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-974 | Lysyl Hydroxylase 2a/2b (human) | LH2a ILE252VAL (LH2a) - ILE252VAL (LH2b) (PLOD2 c.754A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-975 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU011LEU (LH2a) - LEU011LEU (LH2b) (PLOD2 c.33G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-976 | Lysyl Hydroxylase 2a/2b (human) | LH2a ILE159PHE (LH2a) - ILE159PHE (LH2b) (PLOD2 c.475A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-977 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLY591ARG (LH2a) - GLY612ARG (LH2b) (PLOD2 c.1771G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-978 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU318PHE (LH2a) - LEU318PHE (LH2b) (PLOD2 c.954G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-980 | Lysyl Hydroxylase 2a/2b (human) | LH2a ALA026ALA (LH2a) - ALA026ALA (LH2b) (PLOD2 c.78G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-981 | Lysyl Hydroxylase 2a/2b (human) | LH2a VAL483ILE (LH2a) - VAL483ILE (LH2b) (PLOD2 c.1447G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-982 | Lysyl Hydroxylase 2a/2b (human) | LH2a ILE599VAL (LH2a) - ILE620VAL (LH2b) (PLOD2 c.1795A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-983 | Lysyl Hydroxylase 2a/2b (human) | LH2a PRO122ALA (LH2a) - PRO122ALA (LH2b) (PLOD2 c.364C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-984 | Lysyl Hydroxylase 2a/2b (human) | LH2a PRO122SER (LH2a) - PRO122SER (LH2b) (PLOD2 c.364C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-985 | Lysyl Hydroxylase 2a/2b (human) | LH2a CYS279TRP (LH2a) - CYS279TRP (LH2b) (PLOD2 c.837C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-986 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP102ASP (LH2a) - ASP102ASP (LH2b) (PLOD2 c.306T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-987 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR643MET (LH2a) - THR664MET (LH2b) (PLOD2 c.1928C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-988 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP104GLY (LH2a) - ASP104GLY (LH2b) (PLOD2 c.311A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-989 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP104VAL (LH2a) - ASP104VAL (LH2b) (PLOD2 c.311A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-990 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG659GLN (LH2a) - ARG680GLN (LH2b) (PLOD2 c.1976G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-991 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR643THR (LH2a) - THR664THR (LH2b) (PLOD2 c.1929G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-992 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG598CYS (LH2a) - ARG619CYS (LH2b) (PLOD2 c.1792C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-993 | Lysyl Hydroxylase 2a/2b (human) | LH2a ILE117VAL (LH2a) - ILE117VAL (LH2b) (PLOD2 c.349A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-994 | Lysyl Hydroxylase 2a/2b (human) | LH2a LYS574LYS (LH2a) - LYS595LYS (LH2b) (PLOD2 c.1722A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-995 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU635LEU (LH2a) - LEU656LEU (LH2b) (PLOD2 c.1905G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-996 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU472PHE (LH2a) - LEU472PHE (LH2b) (PLOD2 c.1414C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-997 | Lysyl Hydroxylase 2a/2b (human) | LH2a HIS099ARG (LH2a) - HIS099ARG (LH2b) (PLOD2 c.296A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-998 | Lysyl Hydroxylase 2a/2b (human) | LH2a LYS067LYS (LH2a) - LYS067LYS (LH2b) (PLOD2 c.201G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-999 | Lysyl Hydroxylase 2a/2b (human) | LH2a LYS067ASN (LH2a) - LYS067ASN (LH2b) (PLOD2 c.201G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1000 | Lysyl Hydroxylase 2a/2b (human) | LH2a TRP020CYS (LH2a) - TRP020CYS (LH2b) (PLOD2 c.60G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1001 | Lysyl Hydroxylase 2a/2b (human) | LH2a LYS358GLU (LH2a) - LYS358GLU (LH2b) (PLOD2 c.1072A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1002 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP141GLY (LH2a) - ASP141GLY (LH2b) (PLOD2 c.422A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1003 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP141VAL (LH2a) - ASP141VAL (LH2b) (PLOD2 c.422A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1004 | Lysyl Hydroxylase 2a/2b (human) | LH2a ALA026SER (LH2a) - ALA026SER (LH2b) (PLOD2 c.76G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1005 | Lysyl Hydroxylase 2a/2b (human) | LH2a VAL096VAL (LH2a) - VAL096VAL (LH2b) (PLOD2 c.288C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1006 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR274ALA (LH2a) - THR274ALA (LH2b) (PLOD2 c.820A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1007 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR274PRO (LH2a) - THR274PRO (LH2b) (PLOD2 c.820A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1008 | Lysyl Hydroxylase 2a/2b (human) | LH2a ALA369VAL (LH2a) - ALA369VAL (LH2b) (PLOD2 c.1106C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1009 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU164LEU (LH2a) - LEU164LEU (LH2b) (PLOD2 c.492G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1010 | Lysyl Hydroxylase 2a/2b (human) | LH2a PRO019PRO (LH2a) - PRO019PRO (LH2b) (PLOD2 c.57C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1011 | Lysyl Hydroxylase 2a/2b (human) | LH2a PHE378PHE (LH2a) - PHE378PHE (LH2b) (PLOD2 c.1134T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1012 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG627GLN (LH2a) - ARG648GLN (LH2b) (PLOD2 c.1880G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1013 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU515LEU (LH2a) - LEU536LEU (LH2b) (PLOD2 c.1545A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1014 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLN306ARG (LH2a) - GLN306ARG (LH2b) (PLOD2 c.917A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1015 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU012LEU (LH2a) - LEU012LEU (LH2b) (PLOD2 c.36C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1016 | Lysyl Hydroxylase 2a/2b (human) | LH2a TYR172CYS (LH2a) - TYR172CYS (LH2b) (PLOD2 c.515A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1017 | Lysyl Hydroxylase 2a/2b (human) | LH2a LYS259LYS (LH2a) - LYS259LYS (LH2b) (PLOD2 c.777G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1018 | Lysyl Hydroxylase 2a/2b (human) | LH2a LYS259ASN (LH2a) - LYS259ASN (LH2b) (PLOD2 c.777G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1019 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG420PRO (LH2a) - ARG420PRO (LH2b) (PLOD2 c.1259G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1020 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLN381GLN (LH2a) - GLN381GLN (LH2b) (PLOD2 c.1143G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1021 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU648PRO (LH2a) - LEU669PRO (LH2b) (PLOD2 c.1943T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1022 | Lysyl Hydroxylase 2a/2b (human) | LH2a VAL287VAL (LH2a) - VAL287VAL (LH2b) (PLOD2 c.861C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1023 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLU363GLU (LH2a) - GLU363GLU (LH2b) (PLOD2 c.1089A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1024 | Lysyl Hydroxylase 2a/2b (human) | LH2a VAL066MET (LH2a) - VAL066MET (LH2b) (PLOD2 c.196G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1025 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLU048GLN (LH2a) - GLU048GLN (LH2b) (PLOD2 c.142G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1026 | Lysyl Hydroxylase 2a/2b (human) | LH2a ILE735MET (LH2a) - ILE756MET (LH2b) (PLOD2 c.2205A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1027 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG178CYS (LH2a) - ARG178CYS (LH2b) (PLOD2 c.532C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1028 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASN680ASN (LH2a) - ASN701ASN (LH2b) (PLOD2 c.2040C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1029 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLY077ASP (LH2a) - GLY077ASP (LH2b) (PLOD2 c.230G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1030 | Lysyl Hydroxylase 2a/2b (human) | LH2a PRO022PRO (LH2a) - PRO022PRO (LH2b) (PLOD2 c.66C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1031 | Lysyl Hydroxylase 2a/2b (human) | LH2a LYS344LYS (LH2a) - LYS344LYS (LH2b) (PLOD2 c.1032G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1032 | Lysyl Hydroxylase 2a/2b (human) | LH2a LYS344ASN (LH2a) - LYS344ASN (LH2b) (PLOD2 c.1032G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1033 | Lysyl Hydroxylase 2a/2b (human) | LH2a HIS295LEU (LH2a) - HIS295LEU (LH2b) (PLOD2 c.884A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1034 | Lysyl Hydroxylase 2a/2b (human) | LH2a TYR268TYR (LH2a) - TYR268TYR (LH2b) (PLOD2 c.804T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1035 | Lysyl Hydroxylase 2a/2b (human) | LH2a TYR172HIS (LH2a) - TYR172HIS (LH2b) (PLOD2 c.514T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1036 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP293VAL (LH2a) - ASP293VAL (LH2b) (PLOD2 c.878A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1037 | Lysyl Hydroxylase 2a/2b (human) | LH2a SER083GLY (LH2a) - SER083GLY (LH2b) (PLOD2 c.247A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1038 | Lysyl Hydroxylase 2a/2b (human) | LH2a SER033CYS (LH2a) - SER033CYS (LH2b) (PLOD2 c.97A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1039 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR196THR (LH2a) - THR196THR (LH2b) (PLOD2 c.588T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1040 | Lysyl Hydroxylase 2a/2b (human) | LH2a ILE626THR (LH2a) - ILE647THR (LH2b) (PLOD2 c.1877T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1041 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG473GLN (LH2a) - ARG473GLN (LH2b) (PLOD2 c.1418G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1042 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG473LEU (LH2a) - ARG473LEU (LH2b) (PLOD2 c.1418G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1043 | Lysyl Hydroxylase 2a/2b (human) | LH2a PHE118CYS (LH2a) - PHE118CYS (LH2b) (PLOD2 c.353T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1044 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR727ILE (LH2a) - THR748ILE (LH2b) (PLOD2 c.2180C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1045 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLY375GLY (LH2a) - GLY375GLY (LH2b) (PLOD2 c.1125A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1046 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASN063SER (LH2a) - ASN063SER (LH2b) (PLOD2 c.188A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1047 | Lysyl Hydroxylase 2a/2b (human) | LH2a SER524SER (LH2a) - SER545SER (LH2b) (PLOD2 c.1572C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1048 | Lysyl Hydroxylase 2a/2b (human) | LH2a VAL298VAL (LH2a) - VAL298VAL (LH2b) (PLOD2 c.894A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1049 | Lysyl Hydroxylase 2a/2b (human) | LH2a ALA369ALA (LH2a) - ALA369ALA (LH2b) (PLOD2 c.1107G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1050 | Lysyl Hydroxylase 2a/2b (human) | LH2a PHE114ILE (LH2a) - PHE114ILE (LH2b) (PLOD2 c.340T>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1051 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG547HIS (LH2a) - ARG568HIS (LH2b) (PLOD2 c.1640G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1052 | Lysyl Hydroxylase 2a/2b (human) | LH2a VAL453GLY (LH2a) - VAL453GLY (LH2b) (PLOD2 c.1358T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1053 | Lysyl Hydroxylase 2a/2b (human) | LH2a LYS161LYS (LH2a) - LYS161LYS (LH2b) (PLOD2 c.483A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1054 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR065ALA (LH2a) - THR065ALA (LH2b) (PLOD2 c.193A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1055 | Lysyl Hydroxylase 2a/2b (human) | LH2a PRO561ALA (LH2a) - PRO582ALA (LH2b) (PLOD2 c.1681C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1056 | Lysyl Hydroxylase 2a/2b (human) | LH2a PRO561THR (LH2a) - PRO582THR (LH2b) (PLOD2 c.1681C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1057 | Lysyl Hydroxylase 2a/2b (human) | LH2a VAL125ALA (LH2a) - VAL125ALA (LH2b) (PLOD2 c.374T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1058 | Lysyl Hydroxylase 2a/2b (human) | LH2a LYS232THR (LH2a) - LYS232THR (LH2b) (PLOD2 c.695A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1059 | Lysyl Hydroxylase 2a/2b (human) | LH2a PRO702ARG (LH2a) - PRO723ARG (LH2b) (PLOD2 c.2105C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1060 | Lysyl Hydroxylase 2a/2b (human) | LH2a TRP183ARG (LH2a) - TRP183ARG (LH2b) (PLOD2 c.547T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1061 | Lysyl Hydroxylase 2a/2b (human) | LH2a SER597SER (LH2a) - SER618SER (LH2b) (PLOD2 c.1791C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1062 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG547ARG (LH2a) - ARG568ARG (LH2b) (PLOD2 c.1641T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1063 | Lysyl Hydroxylase 2a/2b (human) | LH2a MET491THR (LH2a) - MET491THR (LH2b) (PLOD2 c.1472T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1064 | Lysyl Hydroxylase 2a/2b (human) | LH2a VAL108ILE (LH2a) - VAL108ILE (LH2b) (PLOD2 c.322G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1065 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG205SER (LH2a) - ARG205SER (LH2b) (PLOD2 c.615G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1066 | Lysyl Hydroxylase 2a/2b (human) | LH2a ILE414VAL (LH2a) - ILE414VAL (LH2b) (PLOD2 c.1240A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1067 | Lysyl Hydroxylase 2a/2b (human) | LH2a ILE084SER (LH2a) - ILE084SER (LH2b) (PLOD2 c.251T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1068 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASN188ASP (LH2a) - ASN188ASP (LH2b) (PLOD2 c.562A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1069 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG627GLY (LH2a) - ARG648GLY (LH2b) (PLOD2 c.1879C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1070 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG627TRP (LH2a) - ARG648TRP (LH2b) (PLOD2 c.1879C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1071 | Lysyl Hydroxylase 2a/2b (human) | LH2a ILE317VAL (LH2a) - ILE317VAL (LH2b) (PLOD2 c.949A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1072 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP377ASN (LH2a) - ASP377ASN (LH2b) (PLOD2 c.1129G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1073 | Lysyl Hydroxylase 2a/2b (human) | LH2a MET376ILE (LH2a) - MET376ILE (LH2b) (PLOD2 c.1128G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1074 | Lysyl Hydroxylase 2a/2b (human) | LH2a SER572SER (LH2a) - SER593SER (LH2b) (PLOD2 c.1716T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1075 | Lysyl Hydroxylase 2a/2b (human) | LH2a MET097ILE (LH2a) - MET097ILE (LH2b) (PLOD2 c.291G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1076 | Lysyl Hydroxylase 2a/2b (human) | LH2a SER517CYS (LH2a) - SER538CYS (LH2b) (PLOD2 c.1550C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1077 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU330LEU (LH2a) - LEU330LEU (LH2b) (PLOD2 c.990T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1078 | Lysyl Hydroxylase 2a/2b (human) | LH2a PRO146THR (LH2a) - PRO146THR (LH2b) (PLOD2 c.436C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1079 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR402THR (LH2a) - THR402THR (LH2b) (PLOD2 c.1206T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1080 | Lysyl Hydroxylase 2a/2b (human) | LH2a CYS576TRP (LH2a) - CYS597TRP (LH2b) (PLOD2 c.1728T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1081 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR046ALA (LH2a) - THR046ALA (LH2b) (PLOD2 c.136A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1082 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP190VAL (LH2a) - ASP190VAL (LH2b) (PLOD2 c.569A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1083 | Lysyl Hydroxylase 2a/2b (human) | LH2a HIS053ARG (LH2a) - HIS053ARG (LH2b) (PLOD2 c.158A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1084 | Lysyl Hydroxylase 2a/2b (human) | LH2a ILE357VAL (LH2a) - ILE357VAL (LH2b) (PLOD2 c.1069A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1085 | Lysyl Hydroxylase 2a/2b (human) | LH2a ALA631VAL (LH2a) - ALA652VAL (LH2b) (PLOD2 c.1892C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1086 | Lysyl Hydroxylase 2a/2b (human) | LH2a VAL391LEU (LH2a) - VAL391LEU (LH2b) (PLOD2 c.1171G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1087 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP316GLY (LH2a) - ASP316GLY (LH2b) (PLOD2 c.947A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1088 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLU408GLU (LH2a) - GLU408GLU (LH2b) (PLOD2 c.1224A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1089 | Lysyl Hydroxylase 2a/2b (human) | LH2a CYS113CYS (LH2a) - CYS113CYS (LH2b) (PLOD2 c.339C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1090 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG054GLN (LH2a) - ARG054GLN (LH2b) (PLOD2 c.161G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1091 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG054LEU (LH2a) - ARG054LEU (LH2b) (PLOD2 c.161G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1092 | Lysyl Hydroxylase 2a/2b (human) | LH2a PRO155PRO (LH2a) - PRO155PRO (LH2b) (PLOD2 c.465T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1093 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU493PHE (LH2a) - LEU493PHE (LH2b) (PLOD2 c.1477C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1094 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU493VAL (LH2a) - LEU493VAL (LH2b) (PLOD2 c.1477C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1095 | Lysyl Hydroxylase 2a/2b (human) | LH2a VAL681VAL (LH2a) - VAL702VAL (LH2b) (PLOD2 c.2043G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1096 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP147ASN (LH2a) - ASP147ASN (LH2b) (PLOD2 c.439G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1097 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP147HIS (LH2a) - ASP147HIS (LH2b) (PLOD2 c.439G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1098 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP293ASN (LH2a) - ASP293ASN (LH2b) (PLOD2 c.877G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1099 | Lysyl Hydroxylase 2a/2b (human) | LH2a PHE284PHE (LH2a) - PHE284PHE (LH2b) (PLOD2 c.852C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1100 | Lysyl Hydroxylase 2a/2b (human) | LH2a PHE284LEU (LH2a) - PHE284LEU (LH2b) (PLOD2 c.852C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1101 | Lysyl Hydroxylase 2a/2b (human) | LH2a TYR437TYR (LH2a) - TYR437TYR (LH2b) (PLOD2 c.1311C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1102 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR518THR (LH2a) - THR539THR (LH2b) (PLOD2 c.1554T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1103 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG664HIS (LH2a) - ARG685HIS (LH2b) (PLOD2 c.1991G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1104 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASN620SER (LH2a) - ASN641SER (LH2b) (PLOD2 c.1859A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1105 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG380LEU (LH2a) - ARG380LEU (LH2b) (PLOD2 c.1139G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1106 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG484HIS (LH2a) - ARG484HIS (LH2b) (PLOD2 c.1451G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1107 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG484LEU (LH2a) - ARG484LEU (LH2b) (PLOD2 c.1451G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1108 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG484PRO (LH2a) - ARG484PRO (LH2b) (PLOD2 c.1451G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1109 | Lysyl Hydroxylase 2a/2b (human) | LH2a TYR641CYS (LH2a) - TYR662CYS (LH2b) (PLOD2 c.1922A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1110 | Lysyl Hydroxylase 2a/2b (human) | LH2a PRO324ARG (LH2a) - PRO324ARG (LH2b) (PLOD2 c.971C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1111 | Lysyl Hydroxylase 2a/2b (human) | LH2a PRO324LEU (LH2a) - PRO324LEU (LH2b) (PLOD2 c.971C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1112 | Lysyl Hydroxylase 2a/2b (human) | LH2a TRP020GLY (LH2a) - TRP020GLY (LH2b) (PLOD2 c.58T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1113 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASN528ASN (LH2a) - ASN549ASN (LH2b) (PLOD2 c.1584T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1114 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP285ASN (LH2a) - ASP285ASN (LH2b) (PLOD2 c.853G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1115 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP285HIS (LH2a) - ASP285HIS (LH2b) (PLOD2 c.853G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1116 | Lysyl Hydroxylase 2a/2b (human) | LH2a MET376LEU (LH2a) - MET376LEU (LH2b) (PLOD2 c.1126A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1117 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP141ASP (LH2a) - ASP141ASP (LH2b) (PLOD2 c.423T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1118 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLU683LYS (LH2a) - GLU704LYS (LH2b) (PLOD2 c.2047G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1119 | Lysyl Hydroxylase 2a/2b (human) | LH2a LYS344THR (LH2a) - LYS344THR (LH2b) (PLOD2 c.1031A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1120 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASN177SER (LH2a) - ASN177SER (LH2b) (PLOD2 c.530A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1121 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU424PRO (LH2a) - LEU424PRO (LH2b) (PLOD2 c.1271T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1122 | Lysyl Hydroxylase 2a/2b (human) | LH2a CYS282ARG (LH2a) - CYS282ARG (LH2b) (PLOD2 c.844T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1123 | Lysyl Hydroxylase 2a/2b (human) | LH2a CYS282GLY (LH2a) - CYS282GLY (LH2b) (PLOD2 c.844T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1124 | Lysyl Hydroxylase 2a/2b (human) | LH2a CYS004SER (LH2a) - CYS004SER (LH2b) (PLOD2 c.10T>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1125 | Lysyl Hydroxylase 2a/2b (human) | LH2a PRO722PRO (LH2a) - PRO743PRO (LH2b) (PLOD2 c.2166T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1129 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLU112GLY (LH2a) - GLU112GLY (LH2b) (PLOD2 c.335A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1130 | Lysyl Hydroxylase 2a/2b (human) | LH2a LYS574ASN (LH2a) - LYS595ASN (LH2b) (PLOD2 c.1722A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1131 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG313TRP (LH2a) - ARG313TRP (LH2b) (PLOD2 c.937C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1132 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG420HIS (LH2a) - ARG420HIS (LH2b) (PLOD2 c.1259G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1133 | Lysyl Hydroxylase 2a/2b (human) | LH2a ILE179VAL (LH2a) - ILE179VAL (LH2b) (PLOD2 c.535A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1134 | Lysyl Hydroxylase 2a/2b (human) | LH2a TYR268END (LH2a) - TYR268END (LH2b) (PLOD2 c.804T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1135 | Lysyl Hydroxylase 2a/2b (human) | LH2a ILE699VAL (LH2a) - ILE720VAL (LH2b) (PLOD2 c.2095A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1136 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP386ASN (LH2a) - ASP386ASN (LH2b) (PLOD2 c.1156G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1139 | Lysyl Hydroxylase 2a/2b (human) | LH2a VAL269ILE (LH2a) - VAL269ILE (LH2b) (PLOD2 c.805G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1140 | Lysyl Hydroxylase 2a/2b (human) | LH2a MET374VAL (LH2a) - MET374VAL (LH2b) (PLOD2 c.1120A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1141 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG380HIS (LH2a) - ARG380HIS (LH2b) (PLOD2 c.1139G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1143 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG420CYS (LH2a) - ARG420CYS (LH2b) (PLOD2 c.1258C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1144 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG313GLN (LH2a) - ARG313GLN (LH2b) (PLOD2 c.938G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1146 | Lysyl Hydroxylase 2a/2b (human) | LH2a GLU683END (LH2a) - GLU704END (LH2b) (PLOD2 c.2047G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1159 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG054END (LH2a) - ARG054END (LH2b) (PLOD2 c.160C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1160 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG473GLY (LH2a) - ARG473GLY (LH2b) (PLOD2 c.1417C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-1162 | Lysyl Hydroxylase 2a/2b (human) | LH2a SER058END (LH2a) - SER058END (LH2b) (PLOD2 c.173C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD2-335 | Lysyl Hydroxylase 2a/2b (human) | LH2a LEU714ASP (LH2a) - LEU735ASP (LH2b) (PLOD2) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Guo et al., 2018 |
View |
| SiMPLOD2-336 | Lysyl Hydroxylase 2a/2b (human) | LH2a ASP668ALA (LH2a) - ASP689ALA (LH2b) (PLOD2) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Guo et al., 2018 |
View |
| SiMPLOD3-1151 | Lysyl Hydroxylase 3 (human) | LH3 PRO270LEU (PLOD3 c.809C>T) |
Stickler syndrome type VII (vascular type) Pathogenic |
623469 | Ewans et al, 2019 |
View |
| SiMPLOD3-259 | Lysyl Hydroxylase 3 (human) | LH3 ASN223SER (PLOD3 c.668A>G) |
Connective tissue disorder (bone fragility with contractures, arterial rupture, and deafness, resembling to osteogenesis imperfecta) Pathogenic |
6643 | Salo et al., 2008 Scietti et al., 2018 |
View |
| SiMPLOD3-260 | Lysyl Hydroxylase 3 (human) | LH3 CYS691ALAFS (PLOD3 c.2071del) |
Connective tissue disorder (bone fragility with contractures, arterial rupture, and deafness, resembling to osteogenesis imperfecta) Pathogenic |
6644 | Salo et al., 2008 |
View |
| SiMPLOD3-1147 | Lysyl Hydroxylase 3 (human) | LH3 LEU627PRO (PLOD3 c.1880T>C) |
Epidermolysis Bullosa Pathogenic |
NA | Vahidnezhad et al., 2018 |
View |
| SiMPLOD3-316 | Lysyl Hydroxylase 3 (human) | LH3 TYR630END (PLOD3 c.1890T>G) |
Connective tissue disorder (bone fragility with contractures, arterial rupture, and deafness, resembling to osteogenesis imperfecta) Likely pathogenic |
225442 | View | |
| SiMPLOD3-272 | Lysyl Hydroxylase 3 (human) | LH3 ASP191ASN (PLOD3 c.571G>A) |
no disease phenotype information available Uncertain significance |
NA | View | |
| SiMPLOD3-299 | Lysyl Hydroxylase 3 (human) | LH3 PRO296ARG (PLOD3 c.887C>G) |
no disease phenotype information available Uncertain significance |
547022 | View | |
| SiMPLOD3-303 | Lysyl Hydroxylase 3 (human) | LH3 GLY713SER (PLOD3 c.2137G>A) |
no disease phenotype information available Uncertain significance |
547021 | View | |
| SiMPLOD3-304 | Lysyl Hydroxylase 3 (human) | LH3 HIS546ASN (PLOD3 c.1636C>A) |
no disease phenotype information available Uncertain significance |
444725 | View | |
| SiMPLOD3-306 | Lysyl Hydroxylase 3 (human) | LH3 THR724MET (PLOD3 c.2171C>T) |
no disease phenotype information available Uncertain significance |
440180 | View | |
| SiMPLOD3-314 | Lysyl Hydroxylase 3 (human) | LH3 ARG665TRP (PLOD3 c.1993C>T) |
no disease phenotype information available Uncertain significance |
425422 | View | |
| SiMPLOD3-315 | Lysyl Hydroxylase 3 (human) | LH3 PRO296HIS (PLOD3 c.887C>A) |
no disease phenotype information available Uncertain significance |
423098 | View | |
| SiMPLOD3-579 | Lysyl Hydroxylase 3 (human) | LH3 ARG452GLN (PLOD3 c.1355G>A) |
no disease phenotype information available Uncertain significance |
618837 | View | |
| SiMPLOD3-663 | Lysyl Hydroxylase 3 (human) | LH3 PRO489LEU (PLOD3 c.1466C>T) |
no disease phenotype information available Uncertain significance |
618838 | View | |
| SiMPLOD3-1150 | Lysyl Hydroxylase 3 (human) | LH3 SER734THR (PLOD3 c.2200T>A) |
no disease phenotype information available Uncertain significance |
618836 | View | |
| SiMPLOD3-1152 | Lysyl Hydroxylase 3 (human) | LH3 VAL559MET (PLOD3 c.1675G>A) |
no disease phenotype information available Uncertain significance |
624296 | View | |
| SiMPLOD3-1154 | Lysyl Hydroxylase 3 (human) | LH3 ARG647TRP (PLOD3 c.1939C>T) |
no disease phenotype information available Uncertain significance |
624294 | View | |
| SiMPLOD3-274 | Lysyl Hydroxylase 3 (human) | LH3 GLY224ARG (PLOD3 c.670G>A) |
Connective tissue disorder (bone fragility with contractures, arterial rupture, and deafness, resembling to osteogenesis imperfecta) Uncertain significance |
NA | View | |
| SiMPLOD3-305 | Lysyl Hydroxylase 3 (human) | LH3 ASP382HIS (PLOD3 c.1144G>C) |
no disease phenotype information available Benign/Likely benign |
440182 | View | |
| SiMPLOD3-114 | Lysyl Hydroxylase 3 (human) | LH3 PRO325PRO (PLOD3 c.975C>T) |
no disease phenotype information available Likely benign |
NA | View | |
| SiMPLOD3-312 | Lysyl Hydroxylase 3 (human) | LH3 THR043THR (PLOD3 c.129T>C) |
no disease phenotype information available Likely benign |
440172 | View | |
| SiMPLOD3-481 | Lysyl Hydroxylase 3 (human) | LH3 LEU403LEU (PLOD3 c.1209G>A) |
no disease phenotype information available Likely benign |
618332 | View | |
| SiMPLOD3-1153 | Lysyl Hydroxylase 3 (human) | LH3 GLU560GLN (PLOD3 c.1678G>C) |
no disease phenotype information available Likely benign |
624295 | View | |
| SiMPLOD3-118 | Lysyl Hydroxylase 3 (human) | LH3 LEU515PHE (PLOD3 c.1543C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-192 | Lysyl Hydroxylase 3 (human) | LH3 TYR268TYR (PLOD3 c.804C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-218 | Lysyl Hydroxylase 3 (human) | LH3 VAL269ILE (PLOD3 c.805G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-273 | Lysyl Hydroxylase 3 (human) | LH3 ASP191HIS (PLOD3 c.571G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-275 | Lysyl Hydroxylase 3 (human) | LH3 GLY224ARG (PLOD3 c.670G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-300 | Lysyl Hydroxylase 3 (human) | LH3 PRO296LEU (PLOD3 c.887C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-301 | Lysyl Hydroxylase 3 (human) | LH3 ARG468GLY (PLOD3 c.1402C>G) |
no disease phenotype information available Benign |
618835 | View | |
| SiMPLOD3-302 | Lysyl Hydroxylase 3 (human) | LH3 ARG468TRP (PLOD3 c.1402C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-307 | Lysyl Hydroxylase 3 (human) | LH3 HIS510TYR (PLOD3 c.1528C>T) |
no disease phenotype information available Benign |
440178 | View | |
| SiMPLOD3-308 | Lysyl Hydroxylase 3 (human) | LH3 ALA393ALA (PLOD3 c.1179C>T) |
no disease phenotype information available Benign |
440177 | View | |
| SiMPLOD3-309 | Lysyl Hydroxylase 3 (human) | LH3 ASP190ASP (PLOD3 c.570C>T) |
no disease phenotype information available Benign |
440175 | View | |
| SiMPLOD3-310 | Lysyl Hydroxylase 3 (human) | LH3 ASP190GLU (PLOD3 c.570C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-311 | Lysyl Hydroxylase 3 (human) | LH3 VAL041VAL (PLOD3 c.123G>A) |
no disease phenotype information available Benign |
440173 | View | |
| SiMPLOD3-313 | Lysyl Hydroxylase 3 (human) | LH3 ASP659ASP (PLOD3 c.1977C>T) |
no disease phenotype information available Benign |
440171 | View | |
| SiMPLOD3-338 | Lysyl Hydroxylase 3 (human) | LH3 ASN242ASN (PLOD3 c.726C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-340 | Lysyl Hydroxylase 3 (human) | LH3 ALA101THR (PLOD3 c.301G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-341 | Lysyl Hydroxylase 3 (human) | LH3 ARG239HIS (PLOD3 c.716G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-342 | Lysyl Hydroxylase 3 (human) | LH3 ARG695HIS (PLOD3 c.2084G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-343 | Lysyl Hydroxylase 3 (human) | LH3 PRO348ARG (PLOD3 c.1043C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-344 | Lysyl Hydroxylase 3 (human) | LH3 PRO348LEU (PLOD3 c.1043C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-345 | Lysyl Hydroxylase 3 (human) | LH3 GLN478GLN (PLOD3 c.1434G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-346 | Lysyl Hydroxylase 3 (human) | LH3 VAL538ILE (PLOD3 c.1612G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-347 | Lysyl Hydroxylase 3 (human) | LH3 GLU098GLU (PLOD3 c.294G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-348 | Lysyl Hydroxylase 3 (human) | LH3 ALA646ALA (PLOD3 c.1938G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-349 | Lysyl Hydroxylase 3 (human) | LH3 ARG135HIS (PLOD3 c.404G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-350 | Lysyl Hydroxylase 3 (human) | LH3 ARG135LEU (PLOD3 c.404G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-351 | Lysyl Hydroxylase 3 (human) | LH3 CYS563PHE (PLOD3 c.1688G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-352 | Lysyl Hydroxylase 3 (human) | LH3 HIS421ARG (PLOD3 c.1262A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-353 | Lysyl Hydroxylase 3 (human) | LH3 ALA648VAL (PLOD3 c.1943C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-354 | Lysyl Hydroxylase 3 (human) | LH3 PRO703LEU (PLOD3 c.2108C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-355 | Lysyl Hydroxylase 3 (human) | LH3 ILE240ILE (PLOD3 c.720C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-356 | Lysyl Hydroxylase 3 (human) | LH3 VAL396ILE (PLOD3 c.1186G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-357 | Lysyl Hydroxylase 3 (human) | LH3 PRO564PRO (PLOD3 c.1692G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-358 | Lysyl Hydroxylase 3 (human) | LH3 ASN223ASN (PLOD3 c.669C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-359 | Lysyl Hydroxylase 3 (human) | LH3 ASN223LYS (PLOD3 c.669C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-360 | Lysyl Hydroxylase 3 (human) | LH3 PRO290PRO (PLOD3 c.870G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-361 | Lysyl Hydroxylase 3 (human) | LH3 ARG714HIS (PLOD3 c.2141G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-362 | Lysyl Hydroxylase 3 (human) | LH3 ARG714LEU (PLOD3 c.2141G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-363 | Lysyl Hydroxylase 3 (human) | LH3 ARG498GLN (PLOD3 c.1493G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-364 | Lysyl Hydroxylase 3 (human) | LH3 GLN625ARG (PLOD3 c.1874A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-365 | Lysyl Hydroxylase 3 (human) | LH3 ARG297GLY (PLOD3 c.889C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-366 | Lysyl Hydroxylase 3 (human) | LH3 ARG297TRP (PLOD3 c.889C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-367 | Lysyl Hydroxylase 3 (human) | LH3 ALA059VAL (PLOD3 c.176C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-368 | Lysyl Hydroxylase 3 (human) | LH3 GLN284GLU (PLOD3 c.850C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-369 | Lysyl Hydroxylase 3 (human) | LH3 ASN680ILE (PLOD3 c.2039A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-370 | Lysyl Hydroxylase 3 (human) | LH3 ASN680SER (PLOD3 c.2039A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-371 | Lysyl Hydroxylase 3 (human) | LH3 ARG082ARG (PLOD3 c.244C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-372 | Lysyl Hydroxylase 3 (human) | LH3 ARG082END (PLOD3 c.244C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-373 | Lysyl Hydroxylase 3 (human) | LH3 LYS184LYS (PLOD3 c.552G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-374 | Lysyl Hydroxylase 3 (human) | LH3 TYR438TYR (PLOD3 c.1314C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-375 | Lysyl Hydroxylase 3 (human) | LH3 GLN284ARG (PLOD3 c.851A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-376 | Lysyl Hydroxylase 3 (human) | LH3 ASP394ASN (PLOD3 c.1180G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-377 | Lysyl Hydroxylase 3 (human) | LH3 ARG729CYS (PLOD3 c.2185C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-378 | Lysyl Hydroxylase 3 (human) | LH3 THR123ALA (PLOD3 c.367A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-379 | Lysyl Hydroxylase 3 (human) | LH3 ASP669ASN (PLOD3 c.2005G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-380 | Lysyl Hydroxylase 3 (human) | LH3 ASP669HIS (PLOD3 c.2005G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-381 | Lysyl Hydroxylase 3 (human) | LH3 ILE558ILE (PLOD3 c.1674C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-382 | Lysyl Hydroxylase 3 (human) | LH3 ARG327ARG (PLOD3 c.979A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-383 | Lysyl Hydroxylase 3 (human) | LH3 ARG327GLY (PLOD3 c.979A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-384 | Lysyl Hydroxylase 3 (human) | LH3 ARG327TRP (PLOD3 c.979A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-385 | Lysyl Hydroxylase 3 (human) | LH3 ASN223HIS (PLOD3 c.667A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-386 | Lysyl Hydroxylase 3 (human) | LH3 TYR642TYR (PLOD3 c.1926C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-388 | Lysyl Hydroxylase 3 (human) | LH3 ASN283ASP (PLOD3 c.847A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-389 | Lysyl Hydroxylase 3 (human) | LH3 ARG473TRP (PLOD3 c.1417C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-390 | Lysyl Hydroxylase 3 (human) | LH3 ASP377ASP (PLOD3 c.1131C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-391 | Lysyl Hydroxylase 3 (human) | LH3 ASP377GLU (PLOD3 c.1131C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-392 | Lysyl Hydroxylase 3 (human) | LH3 ASN236LYS (PLOD3 c.708C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-393 | Lysyl Hydroxylase 3 (human) | LH3 ARG082GLN (PLOD3 c.245G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-394 | Lysyl Hydroxylase 3 (human) | LH3 ARG082PRO (PLOD3 c.245G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-395 | Lysyl Hydroxylase 3 (human) | LH3 ILE170LEU (PLOD3 c.508A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-396 | Lysyl Hydroxylase 3 (human) | LH3 ILE170VAL (PLOD3 c.508A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-397 | Lysyl Hydroxylase 3 (human) | LH3 SER367SER (PLOD3 c.1101C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-398 | Lysyl Hydroxylase 3 (human) | LH3 ALA059ALA (PLOD3 c.177G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-399 | Lysyl Hydroxylase 3 (human) | LH3 PHE534PHE (PLOD3 c.1602C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-400 | Lysyl Hydroxylase 3 (human) | LH3 PHE534LEU (PLOD3 c.1602C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-401 | Lysyl Hydroxylase 3 (human) | LH3 THR523THR (PLOD3 c.1569G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-402 | Lysyl Hydroxylase 3 (human) | LH3 PRO383PRO (PLOD3 c.1149C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-403 | Lysyl Hydroxylase 3 (human) | LH3 ARG551GLN (PLOD3 c.1652G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-404 | Lysyl Hydroxylase 3 (human) | LH3 ARG551PRO (PLOD3 c.1652G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-405 | Lysyl Hydroxylase 3 (human) | LH3 ILE407THR (PLOD3 c.1220T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-406 | Lysyl Hydroxylase 3 (human) | LH3 ASP529ASN (PLOD3 c.1585G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-407 | Lysyl Hydroxylase 3 (human) | LH3 ASP529TYR (PLOD3 c.1585G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-408 | Lysyl Hydroxylase 3 (human) | LH3 TYR619TYR (PLOD3 c.1857C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-409 | Lysyl Hydroxylase 3 (human) | LH3 ASP234GLU (PLOD3 c.702T>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-410 | Lysyl Hydroxylase 3 (human) | LH3 ASP246ASN (PLOD3 c.736G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-411 | Lysyl Hydroxylase 3 (human) | LH3 VAL566MET (PLOD3 c.1696G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-412 | Lysyl Hydroxylase 3 (human) | LH3 GLY430ASP (PLOD3 c.1289G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-414 | Lysyl Hydroxylase 3 (human) | LH3 GLY430VAL (PLOD3 c.1289G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-415 | Lysyl Hydroxylase 3 (human) | LH3 ARG103ARG (PLOD3 c.307C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-416 | Lysyl Hydroxylase 3 (human) | LH3 ARG103GLY (PLOD3 c.307C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-417 | Lysyl Hydroxylase 3 (human) | LH3 ARG103TRP (PLOD3 c.307C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-418 | Lysyl Hydroxylase 3 (human) | LH3 THR068ILE (PLOD3 c.203C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-419 | Lysyl Hydroxylase 3 (human) | LH3 LYS495LYS (PLOD3 c.1485G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-420 | Lysyl Hydroxylase 3 (human) | LH3 VAL180MET (PLOD3 c.538G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-421 | Lysyl Hydroxylase 3 (human) | LH3 ARG313HIS (PLOD3 c.938G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-422 | Lysyl Hydroxylase 3 (human) | LH3 ARG181HIS (PLOD3 c.542G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-423 | Lysyl Hydroxylase 3 (human) | LH3 ARG181PRO (PLOD3 c.542G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-424 | Lysyl Hydroxylase 3 (human) | LH3 LEU424LEU (PLOD3 c.1272G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-425 | Lysyl Hydroxylase 3 (human) | LH3 GLY256SER (PLOD3 c.766G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-426 | Lysyl Hydroxylase 3 (human) | LH3 ASN335ASN (PLOD3 c.1005C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-427 | Lysyl Hydroxylase 3 (human) | LH3 ARG057CYS (PLOD3 c.169C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-428 | Lysyl Hydroxylase 3 (human) | LH3 ARG057SER (PLOD3 c.169C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-429 | Lysyl Hydroxylase 3 (human) | LH3 ARG468GLN (PLOD3 c.1403G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-430 | Lysyl Hydroxylase 3 (human) | LH3 THR159MET (PLOD3 c.476C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-431 | Lysyl Hydroxylase 3 (human) | LH3 GLU340GLN (PLOD3 c.1018G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-432 | Lysyl Hydroxylase 3 (human) | LH3 ASN283SER (PLOD3 c.848A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-433 | Lysyl Hydroxylase 3 (human) | LH3 ARG498END (PLOD3 c.1492C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-434 | Lysyl Hydroxylase 3 (human) | LH3 ARG181CYS (PLOD3 c.541C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-435 | Lysyl Hydroxylase 3 (human) | LH3 ARG237CYS (PLOD3 c.709C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-436 | Lysyl Hydroxylase 3 (human) | LH3 ARG082ARG (PLOD3 c.246A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-437 | Lysyl Hydroxylase 3 (human) | LH3 GLY683VAL (PLOD3 c.2048G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-438 | Lysyl Hydroxylase 3 (human) | LH3 ASP394ASP (PLOD3 c.1182C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-439 | Lysyl Hydroxylase 3 (human) | LH3 PRO640PRO (PLOD3 c.1920C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-440 | Lysyl Hydroxylase 3 (human) | LH3 GLY005ARG (PLOD3 c.13G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-441 | Lysyl Hydroxylase 3 (human) | LH3 ARG380GLN (PLOD3 c.1139G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-442 | Lysyl Hydroxylase 3 (human) | LH3 ASP115ASP (PLOD3 c.345C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-443 | Lysyl Hydroxylase 3 (human) | LH3 ASP115GLU (PLOD3 c.345C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-444 | Lysyl Hydroxylase 3 (human) | LH3 TYR549TYR (PLOD3 c.1647C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-445 | Lysyl Hydroxylase 3 (human) | LH3 THR049THR (PLOD3 c.147C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-446 | Lysyl Hydroxylase 3 (human) | LH3 PRO528PRO (PLOD3 c.1584C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-447 | Lysyl Hydroxylase 3 (human) | LH3 GLU384LYS (PLOD3 c.1150G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-448 | Lysyl Hydroxylase 3 (human) | LH3 GLY120SER (PLOD3 c.358G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-449 | Lysyl Hydroxylase 3 (human) | LH3 GLY557ARG (PLOD3 c.1669G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-450 | Lysyl Hydroxylase 3 (human) | LH3 TRP425ARG (PLOD3 c.1273T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-451 | Lysyl Hydroxylase 3 (human) | LH3 LEU137LEU (PLOD3 c.411C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-452 | Lysyl Hydroxylase 3 (human) | LH3 GLY070SER (PLOD3 c.208G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-453 | Lysyl Hydroxylase 3 (human) | LH3 ARG241TRP (PLOD3 c.721C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-454 | Lysyl Hydroxylase 3 (human) | LH3 PRO564SER (PLOD3 c.1690C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-455 | Lysyl Hydroxylase 3 (human) | LH3 THR398ASN (PLOD3 c.1193C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-456 | Lysyl Hydroxylase 3 (human) | LH3 TRP148ARG (PLOD3 c.442T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-457 | Lysyl Hydroxylase 3 (human) | LH3 ASP522ASN (PLOD3 c.1564G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-458 | Lysyl Hydroxylase 3 (human) | LH3 ASN606ASN (PLOD3 c.1818T>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-459 | Lysyl Hydroxylase 3 (human) | LH3 ASN606LYS (PLOD3 c.1818T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-460 | Lysyl Hydroxylase 3 (human) | LH3 TYR460TYR (PLOD3 c.1380C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-461 | Lysyl Hydroxylase 3 (human) | LH3 TYR460END (PLOD3 c.1380C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-462 | Lysyl Hydroxylase 3 (human) | LH3 TYR630CYS (PLOD3 c.1889A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-463 | Lysyl Hydroxylase 3 (human) | LH3 TYR630PHE (PLOD3 c.1889A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-464 | Lysyl Hydroxylase 3 (human) | LH3 TYR630SER (PLOD3 c.1889A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-465 | Lysyl Hydroxylase 3 (human) | LH3 PRO703PRO (PLOD3 c.2109G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-466 | Lysyl Hydroxylase 3 (human) | LH3 SER637ILE (PLOD3 c.1910G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-467 | Lysyl Hydroxylase 3 (human) | LH3 SER637THR (PLOD3 c.1910G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-468 | Lysyl Hydroxylase 3 (human) | LH3 GLY632GLY (PLOD3 c.1896C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-469 | Lysyl Hydroxylase 3 (human) | LH3 GLY618GLY (PLOD3 c.1854G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-470 | Lysyl Hydroxylase 3 (human) | LH3 TYR521CYS (PLOD3 c.1562A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-471 | Lysyl Hydroxylase 3 (human) | LH3 GLY422VAL (PLOD3 c.1265G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-472 | Lysyl Hydroxylase 3 (human) | LH3 VAL041LEU (PLOD3 c.121G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-473 | Lysyl Hydroxylase 3 (human) | LH3 VAL041MET (PLOD3 c.121G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-474 | Lysyl Hydroxylase 3 (human) | LH3 TRP148LEU (PLOD3 c.443G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-475 | Lysyl Hydroxylase 3 (human) | LH3 TRP148SER (PLOD3 c.443G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-476 | Lysyl Hydroxylase 3 (human) | LH3 TRP148END (PLOD3 c.443G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-477 | Lysyl Hydroxylase 3 (human) | LH3 PRO008SER (PLOD3 c.22C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-478 | Lysyl Hydroxylase 3 (human) | LH3 PRO008THR (PLOD3 c.22C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-479 | Lysyl Hydroxylase 3 (human) | LH3 VAL677ILE (PLOD3 c.2029G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-480 | Lysyl Hydroxylase 3 (human) | LH3 PRO309PRO (PLOD3 c.927G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-482 | Lysyl Hydroxylase 3 (human) | LH3 ALA151ALA (PLOD3 c.453G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-483 | Lysyl Hydroxylase 3 (human) | LH3 ALA708GLU (PLOD3 c.2123C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-484 | Lysyl Hydroxylase 3 (human) | LH3 ALA708VAL (PLOD3 c.2123C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-485 | Lysyl Hydroxylase 3 (human) | LH3 LEU359LEU (PLOD3 c.1077C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-486 | Lysyl Hydroxylase 3 (human) | LH3 ASP234ALA (PLOD3 c.701A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-487 | Lysyl Hydroxylase 3 (human) | LH3 ASP234GLY (PLOD3 c.701A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-488 | Lysyl Hydroxylase 3 (human) | LH3 ASP234VAL (PLOD3 c.701A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-489 | Lysyl Hydroxylase 3 (human) | LH3 PRO489PRO (PLOD3 c.1467G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-490 | Lysyl Hydroxylase 3 (human) | LH3 ASN427SER (PLOD3 c.1280A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-491 | Lysyl Hydroxylase 3 (human) | LH3 VAL298GLY (PLOD3 c.893T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-492 | Lysyl Hydroxylase 3 (human) | LH3 ARG420HIS (PLOD3 c.1259G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-493 | Lysyl Hydroxylase 3 (human) | LH3 GLY203ALA (PLOD3 c.608G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-494 | Lysyl Hydroxylase 3 (human) | LH3 ASP105ASN (PLOD3 c.313G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-495 | Lysyl Hydroxylase 3 (human) | LH3 ASP105TYR (PLOD3 c.313G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-496 | Lysyl Hydroxylase 3 (human) | LH3 TYR444TYR (PLOD3 c.1332C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-497 | Lysyl Hydroxylase 3 (human) | LH3 PRO564LEU (PLOD3 c.1691C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-498 | Lysyl Hydroxylase 3 (human) | LH3 THR672ILE (PLOD3 c.2015C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-499 | Lysyl Hydroxylase 3 (human) | LH3 THR672SER (PLOD3 c.2015C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-500 | Lysyl Hydroxylase 3 (human) | LH3 ARG162CYS (PLOD3 c.484C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-501 | Lysyl Hydroxylase 3 (human) | LH3 ILE170ILE (PLOD3 c.510C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-502 | Lysyl Hydroxylase 3 (human) | LH3 GLN509ARG (PLOD3 c.1526A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-503 | Lysyl Hydroxylase 3 (human) | LH3 MET374LEU (PLOD3 c.1120A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-504 | Lysyl Hydroxylase 3 (human) | LH3 MET374VAL (PLOD3 c.1120A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-505 | Lysyl Hydroxylase 3 (human) | LH3 ARG657GLY (PLOD3 c.1969C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-506 | Lysyl Hydroxylase 3 (human) | LH3 ARG657TRP (PLOD3 c.1969C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-507 | Lysyl Hydroxylase 3 (human) | LH3 PRO368SER (PLOD3 c.1102C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-508 | Lysyl Hydroxylase 3 (human) | LH3 ARG695CYS (PLOD3 c.2083C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-509 | Lysyl Hydroxylase 3 (human) | LH3 ARG239CYS (PLOD3 c.715C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-510 | Lysyl Hydroxylase 3 (human) | LH3 ARG197GLN (PLOD3 c.590G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-511 | Lysyl Hydroxylase 3 (human) | LH3 ARG514TRP (PLOD3 c.1540C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-513 | Lysyl Hydroxylase 3 (human) | LH3 LYS099LYS (PLOD3 c.297A>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-514 | Lysyl Hydroxylase 3 (human) | LH3 LYS099ASN (PLOD3 c.297A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-515 | Lysyl Hydroxylase 3 (human) | LH3 ARG594GLN (PLOD3 c.1781G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-516 | Lysyl Hydroxylase 3 (human) | LH3 ARG594LEU (PLOD3 c.1781G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-517 | Lysyl Hydroxylase 3 (human) | LH3 ARG217TRP (PLOD3 c.649C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-518 | Lysyl Hydroxylase 3 (human) | LH3 ARG665GLN (PLOD3 c.1994G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-519 | Lysyl Hydroxylase 3 (human) | LH3 HIS421HIS (PLOD3 c.1263C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-520 | Lysyl Hydroxylase 3 (human) | LH3 ILE179ILE (PLOD3 c.537C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-521 | Lysyl Hydroxylase 3 (human) | LH3 GLU276GLU (PLOD3 c.828G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-522 | Lysyl Hydroxylase 3 (human) | LH3 PRO257PRO (PLOD3 c.771C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-523 | Lysyl Hydroxylase 3 (human) | LH3 SER702TYR (PLOD3 c.2105C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-524 | Lysyl Hydroxylase 3 (human) | LH3 TYR521TYR (PLOD3 c.1563C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-525 | Lysyl Hydroxylase 3 (human) | LH3 PRO434PRO (PLOD3 c.1302C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-526 | Lysyl Hydroxylase 3 (human) | LH3 MET109ILE (PLOD3 c.327G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-527 | Lysyl Hydroxylase 3 (human) | LH3 GLU547GLN (PLOD3 c.1639G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-528 | Lysyl Hydroxylase 3 (human) | LH3 GLU547LYS (PLOD3 c.1639G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-529 | Lysyl Hydroxylase 3 (human) | LH3 ALA225ALA (PLOD3 c.675T>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-530 | Lysyl Hydroxylase 3 (human) | LH3 ALA344ALA (PLOD3 c.1032T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-531 | Lysyl Hydroxylase 3 (human) | LH3 VAL736VAL (PLOD3 c.2208C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-532 | Lysyl Hydroxylase 3 (human) | LH3 PHE110LEU (PLOD3 c.330T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-533 | Lysyl Hydroxylase 3 (human) | LH3 TYR587TYR (PLOD3 c.1761C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-534 | Lysyl Hydroxylase 3 (human) | LH3 ARG237HIS (PLOD3 c.710G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-535 | Lysyl Hydroxylase 3 (human) | LH3 VAL337VAL (PLOD3 c.1011C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-536 | Lysyl Hydroxylase 3 (human) | LH3 GLU442LYS (PLOD3 c.1324G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-537 | Lysyl Hydroxylase 3 (human) | LH3 GLU384GLU (PLOD3 c.1152G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-538 | Lysyl Hydroxylase 3 (human) | LH3 ASN271SER (PLOD3 c.812A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-539 | Lysyl Hydroxylase 3 (human) | LH3 ASP737ASN (PLOD3 c.2209G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-540 | Lysyl Hydroxylase 3 (human) | LH3 MET634VAL (PLOD3 c.1900A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-541 | Lysyl Hydroxylase 3 (human) | LH3 GLY593ARG (PLOD3 c.1777G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-542 | Lysyl Hydroxylase 3 (human) | LH3 GLY593SER (PLOD3 c.1777G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-543 | Lysyl Hydroxylase 3 (human) | LH3 VAL243MET (PLOD3 c.727G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-544 | Lysyl Hydroxylase 3 (human) | LH3 ALA431THR (PLOD3 c.1291G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-545 | Lysyl Hydroxylase 3 (human) | LH3 ASP697GLY (PLOD3 c.2090A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-546 | Lysyl Hydroxylase 3 (human) | LH3 ARG091GLN (PLOD3 c.272G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-547 | Lysyl Hydroxylase 3 (human) | LH3 PRO309LEU (PLOD3 c.926C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-548 | Lysyl Hydroxylase 3 (human) | LH3 ASP565ASP (PLOD3 c.1695C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-549 | Lysyl Hydroxylase 3 (human) | LH3 ARG647GLN (PLOD3 c.1940G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-550 | Lysyl Hydroxylase 3 (human) | LH3 ARG647LEU (PLOD3 c.1940G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-551 | Lysyl Hydroxylase 3 (human) | LH3 ALA375ASP (PLOD3 c.1124C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-552 | Lysyl Hydroxylase 3 (human) | LH3 ALA375VAL (PLOD3 c.1124C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-553 | Lysyl Hydroxylase 3 (human) | LH3 SER483ALA (PLOD3 c.1447T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-554 | Lysyl Hydroxylase 3 (human) | LH3 SER483PRO (PLOD3 c.1447T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-555 | Lysyl Hydroxylase 3 (human) | LH3 ASN255ASN (PLOD3 c.765C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-556 | Lysyl Hydroxylase 3 (human) | LH3 TYR100ASN (PLOD3 c.298T>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-557 | Lysyl Hydroxylase 3 (human) | LH3 TYR100HIS (PLOD3 c.298T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-558 | Lysyl Hydroxylase 3 (human) | LH3 LEU664LEU (PLOD3 c.1992G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-559 | Lysyl Hydroxylase 3 (human) | LH3 GLY430GLY (PLOD3 c.1290C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-560 | Lysyl Hydroxylase 3 (human) | LH3 HIS668HIS (PLOD3 c.2004C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-561 | Lysyl Hydroxylase 3 (human) | LH3 GLY171SER (PLOD3 c.511G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-562 | Lysyl Hydroxylase 3 (human) | LH3 ARG450GLN (PLOD3 c.1349G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-563 | Lysyl Hydroxylase 3 (human) | LH3 LEU208VAL (PLOD3 c.622C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-564 | Lysyl Hydroxylase 3 (human) | LH3 ARG317GLN (PLOD3 c.950G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-565 | Lysyl Hydroxylase 3 (human) | LH3 PRO296PRO (PLOD3 c.888C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-566 | Lysyl Hydroxylase 3 (human) | LH3 ARG714CYS (PLOD3 c.2140C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-567 | Lysyl Hydroxylase 3 (human) | LH3 ALA393PRO (PLOD3 c.1177G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-568 | Lysyl Hydroxylase 3 (human) | LH3 ALA393SER (PLOD3 c.1177G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-569 | Lysyl Hydroxylase 3 (human) | LH3 ALA393THR (PLOD3 c.1177G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-570 | Lysyl Hydroxylase 3 (human) | LH3 GLU574GLU (PLOD3 c.1722A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-571 | Lysyl Hydroxylase 3 (human) | LH3 GLU574ASP (PLOD3 c.1722A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-572 | Lysyl Hydroxylase 3 (human) | LH3 ILE107ILE (PLOD3 c.321C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-573 | Lysyl Hydroxylase 3 (human) | LH3 ALA517ALA (PLOD3 c.1551C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-574 | Lysyl Hydroxylase 3 (human) | LH3 ASN165SER (PLOD3 c.494A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-575 | Lysyl Hydroxylase 3 (human) | LH3 GLU363ASP (PLOD3 c.1089G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-576 | Lysyl Hydroxylase 3 (human) | LH3 PRO348PRO (PLOD3 c.1044G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-577 | Lysyl Hydroxylase 3 (human) | LH3 ARG692HIS (PLOD3 c.2075G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-578 | Lysyl Hydroxylase 3 (human) | LH3 ASP435GLU (PLOD3 c.1305T>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-580 | Lysyl Hydroxylase 3 (human) | LH3 ARG452PRO (PLOD3 c.1355G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-581 | Lysyl Hydroxylase 3 (human) | LH3 THR308THR (PLOD3 c.924T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-582 | Lysyl Hydroxylase 3 (human) | LH3 HIS668ASP (PLOD3 c.2002C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-583 | Lysyl Hydroxylase 3 (human) | LH3 HIS668TYR (PLOD3 c.2002C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-584 | Lysyl Hydroxylase 3 (human) | LH3 LEU208ARG (PLOD3 c.623T>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-585 | Lysyl Hydroxylase 3 (human) | LH3 ARG235GLN (PLOD3 c.704G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-586 | Lysyl Hydroxylase 3 (human) | LH3 ALA492VAL (PLOD3 c.1475C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-587 | Lysyl Hydroxylase 3 (human) | LH3 ASP326ASN (PLOD3 c.976G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-588 | Lysyl Hydroxylase 3 (human) | LH3 ARG594TRP (PLOD3 c.1780C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-589 | Lysyl Hydroxylase 3 (human) | LH3 PRO562SER (PLOD3 c.1684C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-590 | Lysyl Hydroxylase 3 (human) | LH3 SER003PHE (PLOD3 c.8C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-591 | Lysyl Hydroxylase 3 (human) | LH3 PRO537PRO (PLOD3 c.1611C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-592 | Lysyl Hydroxylase 3 (human) | LH3 ALA646VAL (PLOD3 c.1937C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-593 | Lysyl Hydroxylase 3 (human) | LH3 ASP190ASN (PLOD3 c.568G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-594 | Lysyl Hydroxylase 3 (human) | LH3 GLY087GLU (PLOD3 c.260G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-595 | Lysyl Hydroxylase 3 (human) | LH3 ARG440HIS (PLOD3 c.1319G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-596 | Lysyl Hydroxylase 3 (human) | LH3 ARG440PRO (PLOD3 c.1319G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-597 | Lysyl Hydroxylase 3 (human) | LH3 ASP392ASP (PLOD3 c.1176C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-598 | Lysyl Hydroxylase 3 (human) | LH3 ARG420CYS (PLOD3 c.1258C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-599 | Lysyl Hydroxylase 3 (human) | LH3 GLN661GLU (PLOD3 c.1981C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-600 | Lysyl Hydroxylase 3 (human) | LH3 VAL610MET (PLOD3 c.1828G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-601 | Lysyl Hydroxylase 3 (human) | LH3 ILE502ILE (PLOD3 c.1506C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-602 | Lysyl Hydroxylase 3 (human) | LH3 THR523MET (PLOD3 c.1568C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-603 | Lysyl Hydroxylase 3 (human) | LH3 ARG514GLN (PLOD3 c.1541G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-604 | Lysyl Hydroxylase 3 (human) | LH3 THR635ILE (PLOD3 c.1904C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-605 | Lysyl Hydroxylase 3 (human) | LH3 THR175ILE (PLOD3 c.524C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-606 | Lysyl Hydroxylase 3 (human) | LH3 THR175SER (PLOD3 c.524C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-607 | Lysyl Hydroxylase 3 (human) | LH3 TYR465CYS (PLOD3 c.1394A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-608 | Lysyl Hydroxylase 3 (human) | LH3 TYR465PHE (PLOD3 c.1394A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-609 | Lysyl Hydroxylase 3 (human) | LH3 PRO362LEU (PLOD3 c.1085C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-610 | Lysyl Hydroxylase 3 (human) | LH3 GLU620LYS (PLOD3 c.1858G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-611 | Lysyl Hydroxylase 3 (human) | LH3 ALA708ALA (PLOD3 c.2124A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-612 | Lysyl Hydroxylase 3 (human) | LH3 THR159THR (PLOD3 c.477G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-613 | Lysyl Hydroxylase 3 (human) | LH3 ASN263SER (PLOD3 c.788A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-614 | Lysyl Hydroxylase 3 (human) | LH3 ASP189ASP (PLOD3 c.567C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-615 | Lysyl Hydroxylase 3 (human) | LH3 ASP112GLY (PLOD3 c.335A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-616 | Lysyl Hydroxylase 3 (human) | LH3 PRO738PRO (PLOD3 c.2214C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-617 | Lysyl Hydroxylase 3 (human) | LH3 GLY291ALA (PLOD3 c.872G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-618 | Lysyl Hydroxylase 3 (human) | LH3 GLY291GLU (PLOD3 c.872G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-619 | Lysyl Hydroxylase 3 (human) | LH3 GLY291VAL (PLOD3 c.872G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-620 | Lysyl Hydroxylase 3 (human) | LH3 ARG599TRP (PLOD3 c.1795A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-621 | Lysyl Hydroxylase 3 (human) | LH3 ARG217GLN (PLOD3 c.650G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-622 | Lysyl Hydroxylase 3 (human) | LH3 ALA648ALA (PLOD3 c.1944G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-623 | Lysyl Hydroxylase 3 (human) | LH3 GLU636LYS (PLOD3 c.1906G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-624 | Lysyl Hydroxylase 3 (human) | LH3 HIS719HIS (PLOD3 c.2157C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-625 | Lysyl Hydroxylase 3 (human) | LH3 ALA415ALA (PLOD3 c.1245C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-626 | Lysyl Hydroxylase 3 (human) | LH3 ARG135CYS (PLOD3 c.403C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-627 | Lysyl Hydroxylase 3 (human) | LH3 ASP697ASN (PLOD3 c.2089G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-628 | Lysyl Hydroxylase 3 (human) | LH3 GLY369GLY (PLOD3 c.1107C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-629 | Lysyl Hydroxylase 3 (human) | LH3 ASP435ASN (PLOD3 c.1303G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-631 | Lysyl Hydroxylase 3 (human) | LH3 CYS494ARG (PLOD3 c.1480T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-632 | Lysyl Hydroxylase 3 (human) | LH3 VAL360LEU (PLOD3 c.1078G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-633 | Lysyl Hydroxylase 3 (human) | LH3 VAL360MET (PLOD3 c.1078G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-634 | Lysyl Hydroxylase 3 (human) | LH3 VAL302LEU (PLOD3 c.904G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-635 | Lysyl Hydroxylase 3 (human) | LH3 VAL302MET (PLOD3 c.904G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-636 | Lysyl Hydroxylase 3 (human) | LH3 LEU709LEU (PLOD3 c.2127C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-637 | Lysyl Hydroxylase 3 (human) | LH3 ALA365THR (PLOD3 c.1093G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-638 | Lysyl Hydroxylase 3 (human) | LH3 LEU040LEU (PLOD3 c.120G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-639 | Lysyl Hydroxylase 3 (human) | LH3 ALA301ALA (PLOD3 c.903C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-640 | Lysyl Hydroxylase 3 (human) | LH3 ALA464THR (PLOD3 c.1390G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-641 | Lysyl Hydroxylase 3 (human) | LH3 SER346CYS (PLOD3 c.1037C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-642 | Lysyl Hydroxylase 3 (human) | LH3 SER346PHE (PLOD3 c.1037C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-643 | Lysyl Hydroxylase 3 (human) | LH3 LEU150LEU (PLOD3 c.448C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-644 | Lysyl Hydroxylase 3 (human) | LH3 TYR245TYR (PLOD3 c.735C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-645 | Lysyl Hydroxylase 3 (human) | LH3 ILE250VAL (PLOD3 c.748A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-646 | Lysyl Hydroxylase 3 (human) | LH3 ALA431ASP (PLOD3 c.1292C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-647 | Lysyl Hydroxylase 3 (human) | LH3 ALA431VAL (PLOD3 c.1292C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-648 | Lysyl Hydroxylase 3 (human) | LH3 VAL538VAL (PLOD3 c.1614C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-649 | Lysyl Hydroxylase 3 (human) | LH3 TYR114TYR (PLOD3 c.342C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-650 | Lysyl Hydroxylase 3 (human) | LH3 ARG628GLN (PLOD3 c.1883G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-651 | Lysyl Hydroxylase 3 (human) | LH3 LEU212LEU (PLOD3 c.634C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-652 | Lysyl Hydroxylase 3 (human) | LH3 THR724THR (PLOD3 c.2172G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-653 | Lysyl Hydroxylase 3 (human) | LH3 ARG103GLN (PLOD3 c.308G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-654 | Lysyl Hydroxylase 3 (human) | LH3 ARG103PRO (PLOD3 c.308G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-655 | Lysyl Hydroxylase 3 (human) | LH3 HIS586ASP (PLOD3 c.1756C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-656 | Lysyl Hydroxylase 3 (human) | LH3 VAL328LEU (PLOD3 c.982G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-657 | Lysyl Hydroxylase 3 (human) | LH3 ARG235TRP (PLOD3 c.703C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-658 | Lysyl Hydroxylase 3 (human) | LH3 ASN063LYS (PLOD3 c.189C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-659 | Lysyl Hydroxylase 3 (human) | LH3 ARG286GLN (PLOD3 c.857G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-660 | Lysyl Hydroxylase 3 (human) | LH3 VAL116MET (PLOD3 c.346G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-661 | Lysyl Hydroxylase 3 (human) | LH3 GLY592GLY (PLOD3 c.1776C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-662 | Lysyl Hydroxylase 3 (human) | LH3 TYR656HIS (PLOD3 c.1966T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-664 | Lysyl Hydroxylase 3 (human) | LH3 ALA344PRO (PLOD3 c.1030G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-665 | Lysyl Hydroxylase 3 (human) | LH3 ALA344THR (PLOD3 c.1030G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-666 | Lysyl Hydroxylase 3 (human) | LH3 THR247ARG (PLOD3 c.740C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-667 | Lysyl Hydroxylase 3 (human) | LH3 THR247MET (PLOD3 c.740C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-668 | Lysyl Hydroxylase 3 (human) | LH3 ARG551TRP (PLOD3 c.1651C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-669 | Lysyl Hydroxylase 3 (human) | LH3 ALA415SER (PLOD3 c.1243G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-670 | Lysyl Hydroxylase 3 (human) | LH3 ALA415THR (PLOD3 c.1243G>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-671 | Lysyl Hydroxylase 3 (human) | LH3 SER483LEU (PLOD3 c.1448C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-672 | Lysyl Hydroxylase 3 (human) | LH3 TYR604TYR (PLOD3 c.1812C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-673 | Lysyl Hydroxylase 3 (human) | LH3 LEU330PHE (PLOD3 c.988C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-674 | Lysyl Hydroxylase 3 (human) | LH3 LEU330VAL (PLOD3 c.988C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-675 | Lysyl Hydroxylase 3 (human) | LH3 ARG404CYS (PLOD3 c.1210C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-676 | Lysyl Hydroxylase 3 (human) | LH3 LEU321LEU (PLOD3 c.961C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-677 | Lysyl Hydroxylase 3 (human) | LH3 LEU321MET (PLOD3 c.961C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-678 | Lysyl Hydroxylase 3 (human) | LH3 THR629THR (PLOD3 c.1887G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-679 | Lysyl Hydroxylase 3 (human) | LH3 HIS717HIS (PLOD3 c.2151C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-680 | Lysyl Hydroxylase 3 (human) | LH3 TYR100TYR (PLOD3 c.300C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-681 | Lysyl Hydroxylase 3 (human) | LH3 ARG241GLN (PLOD3 c.722G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-682 | Lysyl Hydroxylase 3 (human) | LH3 GLU386LYS (PLOD3 c.1156G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-684 | Lysyl Hydroxylase 3 (human) | LH3 PRO712PRO (PLOD3 c.2136C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-685 | Lysyl Hydroxylase 3 (human) | LH3 TYR696TYR (PLOD3 c.2088C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-686 | Lysyl Hydroxylase 3 (human) | LH3 TYR696END (PLOD3 c.2088C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-687 | Lysyl Hydroxylase 3 (human) | LH3 ARG313CYS (PLOD3 c.937C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-688 | Lysyl Hydroxylase 3 (human) | LH3 HIS214LEU (PLOD3 c.641A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-689 | Lysyl Hydroxylase 3 (human) | LH3 PRO362PRO (PLOD3 c.1086G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-690 | Lysyl Hydroxylase 3 (human) | LH3 ARG599ARG (PLOD3 c.1797G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-691 | Lysyl Hydroxylase 3 (human) | LH3 ARG599SER (PLOD3 c.1797G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-692 | Lysyl Hydroxylase 3 (human) | LH3 ILE250THR (PLOD3 c.749T>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-693 | Lysyl Hydroxylase 3 (human) | LH3 ALA439PRO (PLOD3 c.1315G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-694 | Lysyl Hydroxylase 3 (human) | LH3 ALA439THR (PLOD3 c.1315G>C) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-695 | Lysyl Hydroxylase 3 (human) | LH3 GLY484GLY (PLOD3 c.1452C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-696 | Lysyl Hydroxylase 3 (human) | LH3 PRO662GLN (PLOD3 c.1985C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-697 | Lysyl Hydroxylase 3 (human) | LH3 PRO662LEU (PLOD3 c.1985C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-698 | Lysyl Hydroxylase 3 (human) | LH3 SER483SER (PLOD3 c.1449G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-699 | Lysyl Hydroxylase 3 (human) | LH3 ARG297GLN (PLOD3 c.890G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-700 | Lysyl Hydroxylase 3 (human) | LH3 LEU638LEU (PLOD3 c.1912C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-701 | Lysyl Hydroxylase 3 (human) | LH3 ARG404HIS (PLOD3 c.1211G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-702 | Lysyl Hydroxylase 3 (human) | LH3 PRO662PRO (PLOD3 c.1986G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-703 | Lysyl Hydroxylase 3 (human) | LH3 ASN676ASN (PLOD3 c.2028C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-704 | Lysyl Hydroxylase 3 (human) | LH3 ASN676LYS (PLOD3 c.2028C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-705 | Lysyl Hydroxylase 3 (human) | LH3 LEU504LEU (PLOD3 c.1512C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-706 | Lysyl Hydroxylase 3 (human) | LH3 THR629MET (PLOD3 c.1886C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-707 | Lysyl Hydroxylase 3 (human) | LH3 ALA151VAL (PLOD3 c.452C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-708 | Lysyl Hydroxylase 3 (human) | LH3 ILE179VAL (PLOD3 c.535A>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-709 | Lysyl Hydroxylase 3 (human) | LH3 ALA492ALA (PLOD3 c.1476C>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-710 | Lysyl Hydroxylase 3 (human) | LH3 PHE331PHE (PLOD3 c.993C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-711 | Lysyl Hydroxylase 3 (human) | LH3 PHE331LEU (PLOD3 c.993C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-712 | Lysyl Hydroxylase 3 (human) | LH3 ARG313ARG (PLOD3 c.939C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-713 | Lysyl Hydroxylase 3 (human) | LH3 ARG286TRP (PLOD3 c.856C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-1163 | Lysyl Hydroxylase 3 (human) | LH3 GLN349END (PLOD3 c.1045C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-1164 | Lysyl Hydroxylase 3 (human) | LH3 LYS207END (PLOD3 c.619A>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-1165 | Lysyl Hydroxylase 3 (human) | LH3 GLN622END (PLOD3 c.1864C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-1166 | Lysyl Hydroxylase 3 (human) | LH3 GLN478END (PLOD3 c.1432C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-1167 | Lysyl Hydroxylase 3 (human) | LH3 GLN478GLU (PLOD3 c.1432C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-1168 | Lysyl Hydroxylase 3 (human) | LH3 TRP273END (PLOD3 c.818G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-1169 | Lysyl Hydroxylase 3 (human) | LH3 TRP075END (PLOD3 c.224G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-1170 | Lysyl Hydroxylase 3 (human) | LH3 TRP590END (PLOD3 c.1770G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-1171 | Lysyl Hydroxylase 3 (human) | LH3 TRP273END (PLOD3 c.819G>A) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-1172 | Lysyl Hydroxylase 3 (human) | LH3 ARG452END (PLOD3 c.1354C>T) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-1173 | Lysyl Hydroxylase 3 (human) | LH3 ARG452GLY (PLOD3 c.1354C>G) |
no disease phenotype information available SNP without clinical evidence |
NA | View | |
| SiMPLOD3-261 | Lysyl Hydroxylase 3 (human) | LH3 TRP075ALA (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Scietti et al., 2018 |
View |
| SiMPLOD3-262 | Lysyl Hydroxylase 3 (human) | LH3 TYR114ALA (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Scietti et al., 2018 |
View |
| SiMPLOD3-263 | Lysyl Hydroxylase 3 (human) | LH3 LEU136VAL (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Wang et al., 2002 |
View |
| SiMPLOD3-264 | Lysyl Hydroxylase 3 (human) | LH3 PHE143LEU (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Wang et al., 2002 |
View |
| SiMPLOD3-265 | Lysyl Hydroxylase 3 (human) | LH3 CYS144ILE (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Wang et al., 2002 |
View |
| SiMPLOD3-266 | Lysyl Hydroxylase 3 (human) | LH3 TRP148ASN LEU150THR (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Scietti et al., 2018 |
View |
| SiMPLOD3-267 | Lysyl Hydroxylase 3 (human) | LH3 ASP187ALA (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Wang et al., 2002 |
View |
| SiMPLOD3-268 | Lysyl Hydroxylase 3 (human) | LH3 ASP188ALA (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Wang et al., 2002 |
View |
| SiMPLOD3-269 | Lysyl Hydroxylase 3 (human) | LH3 ASP189ALA (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Wang et al., 2002 |
View |
| SiMPLOD3-270 | Lysyl Hydroxylase 3 (human) | LH3 ASP190ALA (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Wang et al., 2002 |
View |
| SiMPLOD3-271 | Lysyl Hydroxylase 3 (human) | LH3 ASP191ALA (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Wang et al., 2002 |
View |
| SiMPLOD3-276 | Lysyl Hydroxylase 3 (human) | LH3 LEU208ILE (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Wang et al., 2002 |
View |
| SiMPLOD3-277 | Lysyl Hydroxylase 3 (human) | LH3 ASP392ALA (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Wang et al., 2002 |
View |
| SiMPLOD3-278 | Lysyl Hydroxylase 3 (human) | LH3 ALA464ILE (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Wang et al., 2002 |
View |
| SiMPLOD3-279 | Lysyl Hydroxylase 3 (human) | LH3 MET650LEU (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Wang et al., 2002 |
View |
| SiMPLOD3-282 | Lysyl Hydroxylase 3 (human) | LH3 ASP669ALA (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Heikkinen et al., 2000 |
View |
| SiMPLOD3-284 | Lysyl Hydroxylase 3 (human) | LH3 THR672ASN (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Scietti et al., 2018 |
View |
| SiMPLOD3-286 | Lysyl Hydroxylase 3 (human) | LH3 ARG714ASN (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Scietti et al., 2018 |
View |
| SiMPLOD3-287 | Lysyl Hydroxylase 3 (human) | LH3 LEU715ASP (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Scietti et al., 2018 |
View |
| SiMPLOD3-288 | Lysyl Hydroxylase 3 (human) | LH3 LEU715ARG (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Scietti et al., 2018 |
View |
| SiMPLOD3-292 | Lysyl Hydroxylase 3 (human) | LH3 LEU231END (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Heikkinen et al., 2000 |
View |
| SiMPLOD3-293 | Lysyl Hydroxylase 3 (human) | LH3 loop283-297 (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Heikkinen et al., 2000 |
View |
| SiMPLOD3-294 | Lysyl Hydroxylase 3 (human) | LH3 ARG520END (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Wang et al., 2002 |
View |
| SiMPLOD3-295 | Lysyl Hydroxylase 3 (human) | LH3 GLN401END (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Wang et al., 2002 |
View |
| SiMPLOD3-296 | Lysyl Hydroxylase 3 (human) | LH3 TYR388END (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Wang et al., 2002 |
View |
| SiMPLOD3-297 | Lysyl Hydroxylase 3 (human) | LH3 TYR521END (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Heikkinen et al., 2000 |
View |
| SiMPLOD3-298 | Lysyl Hydroxylase 3 (human) | LH3 HIS668END (PLOD3) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Heikkinen et al., 2000 |
View |
| SiMPLOD4-280 | Lysyl Hydroxylase L230 (mimivirus) | L230 LYS804GLU (L230) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Guo et al., 2018 |
View |
| SiMPLOD4-281 | Lysyl Hydroxylase L230 (mimivirus) | L230 HIS825ALA (L230) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Guo et al., 2018 |
View |
| SiMPLOD4-283 | Lysyl Hydroxylase L230 (mimivirus) | L230 ASP827ALA (L230) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Guo et al., 2018 |
View |
| SiMPLOD4-285 | Lysyl Hydroxylase L230 (mimivirus) | L230 LEU873ASP (L230) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Guo et al., 2018 |
View |
| SiMPLOD4-289 | Lysyl Hydroxylase L230 (mimivirus) | L230 HIS877ALA (L230) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Guo et al., 2018 |
View |
| SiMPLOD4-290 | Lysyl Hydroxylase L230 (mimivirus) | L230 ALA879GLY (L230) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Guo et al., 2018 |
View |
| SiMPLOD4-291 | Lysyl Hydroxylase L230 (mimivirus) | L230 ARG887ALA (L230) |
Biochemical mutation (not necessary related to observed polymorphisms) Mutation for Biochemical Studies (not necessarily related to observed polymorphisms) |
NA | Guo et al., 2018 |
View |
| SiMPLOD6-240 | Lysyl Hydroxylase 2b (human) | LH2b GLY622CYS (PLOD2 c.1864G>T) |
Moderate Osteogenesis Imperfecta - Bruck Syndrome (Type II)
Pathogenic |
NA | van der Slot et al., 2003 Hyry et al., 2009 Puig-Hervas et al., 2012 |
View |
Thank you for using SiMPLOD - Created by Fornerislab@UniPV Follow @Fornerislab - Last curated update: 1970-01-01 00:00:00
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