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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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- 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 |
|---|---|---|---|---|---|---|
| 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 |
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