Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964856
rs121964856
0.800 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003

dbSNP: rs121964856
rs121964856
T 0.800 GeneticVariation CLINVAR Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619

1994

dbSNP: rs121964856
rs121964856
T 0.800 CausalMutation CLINVAR IMAGE CARDIO MED: Inducible malignant ventricular tachyarrhythmia in a patient with genotyped hypertrophic cardiomyopathy in absence of left ventricular hypertrophy or enlargement. 19487599

2009

dbSNP: rs121964856
rs121964856
0.800 GeneticVariation UNIPROT Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 7898523

1995

dbSNP: rs121964856
rs121964856
0.800 GeneticVariation UNIPROT Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892

2005

dbSNP: rs121964856
rs121964856
T 0.800 CausalMutation CLINVAR Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy. 12186860

2002

dbSNP: rs121964856
rs121964856
0.800 GeneticVariation UNIPROT Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy. 8989109

1996

dbSNP: rs121964856
rs121964856
T 0.800 CausalMutation CLINVAR Changes in the chemical and dynamic properties of cardiac troponin T cause discrete cardiomyopathies in transgenic mice. 16326803

2005

dbSNP: rs121964856
rs121964856
T 0.800 CausalMutation CLINVAR Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice. 9788962

1998

dbSNP: rs121964856
rs121964856
0.800 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512

2012

dbSNP: rs121964856
rs121964856
0.800 GeneticVariation UNIPROT Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005

dbSNP: rs121964856
rs121964856
T 0.800 CausalMutation CLINVAR Ca(2+) activation of myofilaments from transgenic mouse hearts expressing R92Q mutant cardiac troponin T. 11158969

2001

dbSNP: rs121964856
rs121964856
0.800 GeneticVariation UNIPROT A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy. 9482583

1998

dbSNP: rs121964856
rs121964856
T 0.800 CausalMutation CLINVAR Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype. 19087273

2008

dbSNP: rs121964856
rs121964856
T 0.800 CausalMutation CLINVAR Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy. 10085122

1999

dbSNP: rs121964856
rs121964856
T 0.800 CausalMutation CLINVAR Sudden death due to troponin T mutations. 9060892

1997

dbSNP: rs121964856
rs121964856
T 0.800 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322

2013

dbSNP: rs121964856
rs121964856
T 0.800 CausalMutation CLINVAR A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 24691700

2015

dbSNP: rs121964856
rs121964856
T 0.800 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014

dbSNP: rs121964856
rs121964856
T 0.800 CausalMutation CLINVAR Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene. 22144547

2012

dbSNP: rs121964856
rs121964856
0.800 GeneticVariation UNIPROT Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. 11034944

2000

dbSNP: rs121964856
rs121964856
T 0.800 CausalMutation CLINVAR Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. 11606294

2001

dbSNP: rs121964856
rs121964856
0.800 GeneticVariation UNIPROT Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003

dbSNP: rs121964856
rs121964856
0.800 GeneticVariation UNIPROT Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619

1994

dbSNP: rs121964856
rs121964856
T 0.800 CausalMutation CLINVAR Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619

1994