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: rs727503513
rs727503513
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs727504247
rs727504247
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 CausalMutation CLINVAR
dbSNP: rs727504277
rs727504277
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs727504331
rs727504331
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		C 0.700 CausalMutation CLINVAR
dbSNP: rs727504488
rs727504488
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0340427
Disease:
Familial dilated cardiomyopathy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs730881115
rs730881115
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs730881119
rs730881119
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease:
Cardiomyopathies 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs730881122
rs730881122
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs863225119
rs863225119
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs863225119
rs863225119
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs863225120
rs863225120
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs869312881
rs869312881
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs876658027
rs876658027
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		AC 0.700 GeneticVariation CLINVAR
dbSNP: rs397516457
rs397516457
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		T 0.800 CausalMutation CLINVAR The chromosome, its anatomy, and its aberrations. 2003160 1991
dbSNP: rs397516457
rs397516457
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		T 0.700 CausalMutation CLINVAR The chromosome, its anatomy, and its aberrations. 2003160 1991
dbSNP: rs397516457
rs397516457
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		T 0.700 CausalMutation CLINVAR The chromosome, its anatomy, and its aberrations. 2003160 1991
dbSNP: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 GeneticVariation UNIPROT Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619 1994
dbSNP: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		T 0.800 CausalMutation CLINVAR Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619 1994
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		T 0.800 GeneticVariation CLINVAR Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619 1994
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 GeneticVariation UNIPROT Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619 1994
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		T 0.800 CausalMutation CLINVAR Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619 1994
dbSNP: rs121964857
rs121964857
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 GeneticVariation UNIPROT Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619 1994
dbSNP: rs121964858
rs121964858
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 GeneticVariation UNIPROT Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619 1994
dbSNP: rs397516456
rs397516456
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 GeneticVariation UNIPROT Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619 1994
dbSNP: rs397516456
rs397516456
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		A 0.800 CausalMutation CLINVAR Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619 1994