COL5A1, collagen type V alpha 1 chain, 1289

N. diseases: 199; N. variants: 69
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564455577
rs1564455577
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		T 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 23587214 2013