COL6A2, collagen type VI alpha 2 chain, 1292

N. diseases: 124; N. variants: 63
Disease: Ullrich congenital muscular dystrophy 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113828929
rs113828929
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1 		A 0.700 CausalMutation CLINVAR