COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
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: rs72656356
rs72656356
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4552122
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		A 0.700 CausalMutation CLINVAR