Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315380
rs74315380
0.710 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

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

2012

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

2012

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

2008

dbSNP: rs74315380
rs74315380
0.710 GeneticVariation CLINVAR Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. 17932326

2008

dbSNP: rs74315380
rs74315380
0.710 GeneticVariation CLINVAR Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 15923195

2005

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

2004

dbSNP: rs74315379
rs74315379
0.710 CausalMutation CLINVAR

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

2015

dbSNP: rs45578238
rs45578238
0.700 CausalMutation CLINVAR Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 23539503

2014

dbSNP: rs727503512
rs727503512
0.700 CausalMutation CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082

2014

dbSNP: rs727503512
rs727503512
0.700 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

2014

dbSNP: rs727503512
rs727503512
0.700 CausalMutation CLINVAR Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. 24205113

2014

dbSNP: rs397516454
rs397516454
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs397516461
rs397516461
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs397516464
rs397516464
0.700 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs397516471
rs397516471
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs45525839
rs45525839
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs45578238
rs45578238
0.700 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs45578238
rs45578238
0.700 CausalMutation CLINVAR Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model. 23383212

2013

dbSNP: rs727503512
rs727503512
0.700 CausalMutation CLINVAR Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. 23074333

2013

dbSNP: rs727503512
rs727503512
0.700 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs730881097
rs730881097
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs876658027
rs876658027
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs45578238
rs45578238
0.700 CausalMutation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012