COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
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: rs398124126
rs398124126
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1 		T 0.700 CausalMutation CLINVAR Natural history of Ullrich congenital muscular dystrophy. 19564581 2009
dbSNP: rs398124126
rs398124126
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1 		T 0.700 CausalMutation CLINVAR Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 15563506 2005