Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517065
rs397517065
ACTC1 ; LOC101928174
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs397517071
rs397517071
ACTC1 ; LOC101928174
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs727504379
rs727504379
ACTC1 ; LOC101928174
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 GeneticVariation CLINVAR Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene. 25201647

2014