Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886043919
rs886043919
COL6A3
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		A 0.700 CausalMutation CLINVAR Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. 18366090

2008