Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516470
rs397516470
T 0.700 CausalMutation CLINVAR Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation. 27036851

2016

dbSNP: rs397516470
rs397516470
T 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: one gene … but many phenotypes. 24792744

2014

dbSNP: rs397516470
rs397516470
T 0.700 CausalMutation CLINVAR Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy. 24480310

2014

dbSNP: rs397516470
rs397516470
T 0.700 CausalMutation CLINVAR Conduction abnormalities in pediatric patients with restrictive cardiomyopathy. 22260945

2012

dbSNP: rs397516470
rs397516470
T 0.700 CausalMutation CLINVAR Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT. 22579624

2012

dbSNP: rs397516470
rs397516470
T 0.700 CausalMutation CLINVAR Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene. 22144547

2012

dbSNP: rs397516470
rs397516470
T 0.700 CausalMutation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503

2011

dbSNP: rs397516470
rs397516470
T 0.700 CausalMutation CLINVAR Functional consequences of the deletion mutation deltaGlu160 in human cardiac troponin T. 10731693

2000

dbSNP: rs397516470
rs397516470
T 0.700 CausalMutation CLINVAR Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 7898523

1995