Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516484
rs397516484
G 0.800 CausalMutation CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961

2014

dbSNP: rs397516484
rs397516484
G 0.800 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322

2013

dbSNP: rs397516484
rs397516484
G 0.800 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013

dbSNP: rs397516484
rs397516484
0.800 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512

2012

dbSNP: rs397516484
rs397516484
0.800 GeneticVariation UNIPROT Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 21267010

2011

dbSNP: rs397516484
rs397516484
G 0.800 CausalMutation CLINVAR Defective dynamic properties of human cardiac troponin mutations. 20057144

2010

dbSNP: rs397516484
rs397516484
G 0.800 CausalMutation CLINVAR Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort. 15958377

2005

dbSNP: rs397516484
rs397516484
0.800 GeneticVariation UNIPROT Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005

dbSNP: rs397516484
rs397516484
0.800 GeneticVariation UNIPROT Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892

2005

dbSNP: rs397516484
rs397516484
0.800 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003

dbSNP: rs397516484
rs397516484
G 0.800 CausalMutation CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003

dbSNP: rs397516484
rs397516484
0.800 GeneticVariation UNIPROT Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003

dbSNP: rs397516484
rs397516484
0.800 GeneticVariation UNIPROT Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. 11034944

2000

dbSNP: rs397516484
rs397516484
0.800 GeneticVariation UNIPROT A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. 10525521

1999

dbSNP: rs397516484
rs397516484
0.800 GeneticVariation UNIPROT A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy. 9482583

1998

dbSNP: rs397516484
rs397516484
0.800 GeneticVariation UNIPROT Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. 9140840

1997

dbSNP: rs397516484
rs397516484
0.800 GeneticVariation UNIPROT Sudden death due to troponin T mutations. 9060892

1997

dbSNP: rs397516484
rs397516484
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: rs397516484
rs397516484
0.800 GeneticVariation UNIPROT Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 7898523

1995

dbSNP: rs397516484
rs397516484
0.800 GeneticVariation UNIPROT Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619

1994