TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Disease: Cardiomyopathy, Dilated, 1FF ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607129
rs267607129
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		0.800 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512 2012
dbSNP: rs267607130
rs267607130
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		0.800 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512 2012
dbSNP: rs267607129
rs267607129
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		0.800 GeneticVariation UNIPROT Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. 19590045 2009
dbSNP: rs267607130
rs267607130
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		0.800 GeneticVariation UNIPROT Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. 19590045 2009
dbSNP: rs267607129
rs267607129
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		C 0.800 CausalMutation CLINVAR
dbSNP: rs267607130
rs267607130
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		T 0.700 GeneticVariation CLINVAR High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. 22876777 2012
dbSNP: rs777177571
rs777177571
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		0.700 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512 2012
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		T 0.700 GeneticVariation CLINVAR Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 21511876 2011
dbSNP: rs777177571
rs777177571
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		0.700 GeneticVariation UNIPROT Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. 19590045 2009
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		T 0.700 GeneticVariation CLINVAR Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. 15698845 2005
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		T 0.700 GeneticVariation CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392 2004
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		T 0.700 GeneticVariation CLINVAR Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 12860912 2003
dbSNP: rs397516349
rs397516349
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		T 0.700 CausalMutation CLINVAR
dbSNP: rs727503504
rs727503504
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		C 0.700 GeneticVariation CLINVAR