Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315379
rs74315379
A 0.720 CausalMutation CLINVAR Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. 11684629

2001

dbSNP: rs74315379
rs74315379
A 0.720 CausalMutation CLINVAR Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. 15769782

2005

dbSNP: rs74315379
rs74315379
A 0.720 CausalMutation 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: rs74315379
rs74315379
A 0.720 CausalMutation CLINVAR Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. 15623536

2005

dbSNP: rs74315379
rs74315379
A 0.720 CausalMutation CLINVAR Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization. 14654368

2003

dbSNP: rs74315379
rs74315379
A 0.720 CausalMutation CLINVAR Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 15923195

2005

dbSNP: rs74315379
rs74315379
A 0.720 CausalMutation CLINVAR Different functional properties of troponin T mutants that cause dilated cardiomyopathy. 12923187

2003

dbSNP: rs74315379
rs74315379
A 0.720 CausalMutation CLINVAR Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 23539503

2013

dbSNP: rs74315379
rs74315379
A 0.720 CausalMutation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004

2008

dbSNP: rs74315379
rs74315379
A 0.720 CausalMutation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012

dbSNP: rs74315379
rs74315379
A 0.720 CausalMutation CLINVAR Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. 24367593

2013

dbSNP: rs74315379
rs74315379
A 0.720 CausalMutation CLINVAR [Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population]. 19253838

2008

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

2004

dbSNP: rs74315380
rs74315380
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
A 0.720 GeneticVariation CLINVAR Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 21551322

2011

dbSNP: rs74315380
rs74315380
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
A 0.720 GeneticVariation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012

dbSNP: rs74315380
rs74315380
A 0.720 GeneticVariation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004

2008

dbSNP: rs397516454
rs397516454
C 0.700 GeneticVariation CLINVAR

dbSNP: rs397516461
rs397516461
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397516464
rs397516464
G 0.700 GeneticVariation CLINVAR Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288

2004

dbSNP: rs397516464
rs397516464
G 0.700 GeneticVariation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004

2008

dbSNP: rs397516464
rs397516464
T 0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014

dbSNP: rs397516464
rs397516464
G 0.700 GeneticVariation CLINVAR Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 15923195

2005

dbSNP: rs397516471
rs397516471
T 0.700 GeneticVariation CLINVAR Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death. 28669108

2017