TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12564445
rs12564445
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0003850
Disease:
Arteriosclerosis
0.010 GeneticVariation BEFREE The hs-cTnT-associated single-nucleotide polymorphisms were not associated with coronary heart disease in a large case-control study, but rs12564445 was significantly associated with incident heart failure in Atherosclerosis Risk in Communities Study European Americans (hazard ratio=1.16; P=0.004). 23247143 2013
dbSNP: rs12564445
rs12564445
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE The hs-cTnT-associated single-nucleotide polymorphisms were not associated with coronary heart disease in a large case-control study, but rs12564445 was significantly associated with incident heart failure in Atherosclerosis Risk in Communities Study European Americans (hazard ratio=1.16; P=0.004). 23247143 2013
dbSNP: rs863225119
rs863225119
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0018817
Disease:
Atrial Septal Defects
0.010 GeneticVariation BEFREE In addition, the cardiomyopathy related MYH6-A1004S and the MYBPC3-A833T mutations were also found in one and two unrelated subjects with ASDII, respectively. 22194935 2011
dbSNP: rs12564445
rs12564445
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0523953
Disease:
Cardiac troponin T measurement
A 0.800 GeneticVariation GWASCAT Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. 23247143 2013
dbSNP: rs12564445
rs12564445
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0523953
Disease:
Cardiac troponin T measurement
A 0.800 GeneticVariation GWASDB Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. 23247143 2013
dbSNP: rs3020556
rs3020556
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0523953
Disease:
Cardiac troponin T measurement
0.700 GeneticVariation GWASDB Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. 23247143 2013
dbSNP: rs397516484
rs397516484
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease:
Cardiomyopathies
G 0.700 CausalMutation CLINVAR
dbSNP: rs45586240
rs45586240
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease:
Cardiomyopathies
A 0.700 GeneticVariation CLINVAR
dbSNP: rs730881119
rs730881119
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease:
Cardiomyopathies
TG 0.700 CausalMutation CLINVAR
dbSNP: rs1060500235
rs1060500235
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease:
Cardiomyopathies
0.010 GeneticVariation BEFREE Two novel variants in cardiomyopathy-related genes were identified: c.247 A > C; p.N83H in the Troponin T Type 2 gene (TNNT2) and c.2863G > A; p.D955N in the Myosin Heavy Polypeptide 7 gene (MYH7). 28642161 2017
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease:
Cardiomyopathies
0.010 GeneticVariation BEFREE Of 180 families with genetically studied cardiomyopathies, 21 families (11.7%) were identified as having mutations in TNNT2: 10 families had Arg92Gln, 5 had Arg286His, 3 had Arg278Cys, 1 had Arg92Trp, 1 had Arg94His, and 1 had Ile221Thr. 26507537 2016
dbSNP: rs863225119
rs863225119
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease:
Cardiomyopathies
0.010 GeneticVariation BEFREE In addition, the cardiomyopathy related MYH6-A1004S and the MYBPC3-A833T mutations were also found in one and two unrelated subjects with ASDII, respectively. 22194935 2011
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Different functional properties of troponin T mutants that cause dilated cardiomyopathy. 12923187 2003
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization. 14654368 2003
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. 24367593 2013
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533 2012
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 23539503 2013
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
0.720 GeneticVariation BEFREE Gene-Targeted Mice with the Human Troponin T R141W Mutation Develop Dilated Cardiomyopathy with Calcium Desensitization. 27936050 2016
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. 15769782 2005
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. 11684629 2001
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. 17932326 2007
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004 2008
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 15923195 2005
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR [Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population]. 19253838 2008
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. 15623536 2005