Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516457
rs397516457
A 0.710 GeneticVariation CLINVAR Hypertrophic Cardiomyopathy Without Ventricular Hypertrophy: Usefulness of Genetic and Pathological Study in Preventing Sudden Death. 28073646

2017

dbSNP: rs397516457
rs397516457
A 0.710 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs397516457
rs397516457
T 0.710 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs397516457
rs397516457
T 0.710 CausalMutation CLINVAR Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. 26507537

2016

dbSNP: rs397516457
rs397516457
T 0.710 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014

dbSNP: rs397516457
rs397516457
A 0.710 GeneticVariation CLINVAR Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. 23074333

2012

dbSNP: rs397516457
rs397516457
T 0.710 CausalMutation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503

2011

dbSNP: rs397516457
rs397516457
T 0.710 CausalMutation CLINVAR Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy. 20031602

2009

dbSNP: rs397516457
rs397516457
A 0.710 GeneticVariation CLINVAR Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 18258667

2008

dbSNP: rs397516457
rs397516457
A 0.710 GeneticVariation CLINVAR Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction. 14722098

2004

dbSNP: rs397516457
rs397516457
A 0.710 GeneticVariation CLINVAR In contrast, a missense mutation R94L in the vicinity of the strong tropomyosin-binding region associated with hypertrophic cardiomyopathy (HCM) resulted in an increase in the Ca(2+) sensitivity of force generation, as in the case of the other HCM-causing mutations in cTnT reported previously. 14654368

2003

dbSNP: rs397516457
rs397516457
0.710 GeneticVariation BEFREE In contrast, a missense mutation R94L in the vicinity of the strong tropomyosin-binding region associated with hypertrophic cardiomyopathy (HCM) resulted in an increase in the Ca(2+) sensitivity of force generation, as in the case of the other HCM-causing mutations in cTnT reported previously. 14654368

2003

dbSNP: rs397516457
rs397516457
A 0.710 GeneticVariation CLINVAR Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. 11606294

2001

dbSNP: rs397516457
rs397516457
A 0.710 GeneticVariation CLINVAR A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. 10525521

1999

dbSNP: rs397516457
rs397516457
T 0.710 CausalMutation CLINVAR A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. 10525521

1999