Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315380
rs74315380
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 GeneticVariation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012

dbSNP: rs74315380
rs74315380
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 GeneticVariation CLINVAR Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 21551322

2011

dbSNP: rs74315380
rs74315380
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 GeneticVariation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004

2008

dbSNP: rs74315380
rs74315380
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 GeneticVariation CLINVAR Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. 17932326

2007

dbSNP: rs74315380
rs74315380
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 GeneticVariation CLINVAR Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 15923195

2005

dbSNP: rs74315380
rs74315380
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 GeneticVariation CLINVAR Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288

2004