Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516470
rs397516470
TNNT2
T 0.700 CausalMutation CLINVAR Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT. 22579624

2012
dbSNP: rs397516470
rs397516470
TNNT2
T 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy--molecular genetic analysis of exons 9 and 11 of the TNNT2 gene in Czech patients. 16538283

2006
dbSNP: rs397516470
rs397516470
TNNT2
T 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs397516470
rs397516470
TNNT2
T 0.700 CausalMutation CLINVAR Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany. 14636924

2003
dbSNP: rs397516470
rs397516470
TNNT2
T 0.700 CausalMutation CLINVAR Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy. 12746413

2003
dbSNP: rs397516470
rs397516470
TNNT2
T 0.700 CausalMutation CLINVAR Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. 11606294

2001
dbSNP: rs397516470
rs397516470
TNNT2
T 0.700 CausalMutation CLINVAR Functional consequences of the deletion mutation deltaGlu160 in human cardiac troponin T. 10731693

2000
dbSNP: rs397516470
rs397516470
TNNT2
T 0.700 CausalMutation CLINVAR Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 7898523

1995