Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912673
rs121912673
ACTC1 ; LOC101928174
CUI: C3150681
Disease: CARDIOMYOPATHY, DILATED, 1R
CARDIOMYOPATHY, DILATED, 1R 		T 0.800 GeneticVariation CLINVAR Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies. 24736382

2014
dbSNP: rs121912673
rs121912673
ACTC1 ; LOC101928174
CUI: C3150681
Disease: CARDIOMYOPATHY, DILATED, 1R
CARDIOMYOPATHY, DILATED, 1R 		T 0.800 GeneticVariation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013
dbSNP: rs121912673
rs121912673
ACTC1 ; LOC101928174
CUI: C3150681
Disease: CARDIOMYOPATHY, DILATED, 1R
CARDIOMYOPATHY, DILATED, 1R 		T 0.800 GeneticVariation CLINVAR Subdomain location of mutations in cardiac actin correlate with type of functional change. 22590617

2012
dbSNP: rs121912673
rs121912673
ACTC1 ; LOC101928174
CUI: C3150681
Disease: CARDIOMYOPATHY, DILATED, 1R
CARDIOMYOPATHY, DILATED, 1R 		T 0.800 GeneticVariation CLINVAR Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. 19799913

2010
dbSNP: rs121912673
rs121912673
ACTC1 ; LOC101928174
CUI: C3150681
Disease: CARDIOMYOPATHY, DILATED, 1R
CARDIOMYOPATHY, DILATED, 1R 		0.800 GeneticVariation UNIPROT Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. 9563954

1998
dbSNP: rs121912673
rs121912673
ACTC1 ; LOC101928174
CUI: C3150681
Disease: CARDIOMYOPATHY, DILATED, 1R
CARDIOMYOPATHY, DILATED, 1R 		T 0.800 GeneticVariation CLINVAR Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. 9563954

1998
dbSNP: rs121912673
rs121912673
ACTC1 ; LOC101928174
CUI: C3150681
Disease: CARDIOMYOPATHY, DILATED, 1R
CARDIOMYOPATHY, DILATED, 1R 		T 0.800 CausalMutation CLINVAR