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 Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210. 23663841

2013
dbSNP: rs121964855
rs121964855
TNNT2
T 0.700 CausalMutation CLINVAR Myosin cross-bridges do not form precise rigor bonds in hypertrophic heart muscle carrying troponin T mutations. 21683708

2011
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 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 Characterization of the two eIF4A-binding sites on human eIF4G-1. 11060291

2001
dbSNP: rs121964855
rs121964855
TNNT2
T 0.700 CausalMutation CLINVAR Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. 10617660

2000
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 Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619

1994