Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727502886
rs727502886
ACTN2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 CausalMutation CLINVAR Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. 20022194

2010