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: rs387906607
rs387906607
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0410179
Disease:
Ullrich congenital muscular dystrophy 1 		0.010 GeneticVariation BEFREE Here we identified a homozygous COL6A2 E624K mutation (C1 subdomain) and a homozygous COL6A2 R876S mutation (C2 subdomain) in two UCMD patients. 20106987 2010