Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964855
rs121964855
TNNT2
T 0.700 CausalMutation CLINVAR Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 18651846

2008
dbSNP: rs121964855
rs121964855
TNNT2
T 0.700 CausalMutation CLINVAR Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. 11606294

2001
dbSNP: rs121964855
rs121964855
TNNT2
T 0.700 CausalMutation CLINVAR Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (I79N) mutation. 11060294

2001
dbSNP: rs121964855
rs121964855
TNNT2
T 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease. 11560853

2001
dbSNP: rs121964855
rs121964855
TNNT2
T 0.700 CausalMutation CLINVAR Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy. 11113119

2001
dbSNP: rs121964855
rs121964855
TNNT2
T 0.700 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: rs121964855
rs121964855
TNNT2
T 0.700 CausalMutation CLINVAR Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 7898523

1995
dbSNP: rs121964855
rs121964855
TNNT2
T 0.700 CausalMutation CLINVAR Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619

1994