COL5A2, collagen type V alpha 2 chain, 1290

N. diseases: 139; N. variants: 20
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553513657
rs1553513657
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4552122
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		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