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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 |
|---|---|---|---|---|---|---|
| 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 |
Thank you for using SiMPLOD - Created by Fornerislab@UniPV Follow @Fornerislab - Last curated update: 1970-01-01 00:00:00
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