TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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: 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: rs727503504
rs727503504
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		C 0.700 GeneticVariation CLINVAR
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: 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: rs397516349
rs397516349
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2678474
Disease:
CARDIOMYOPATHY, DILATED, 2A (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2678474
Disease:
CARDIOMYOPATHY, DILATED, 2A (disorder) 		T 0.700 GeneticVariation CLINVAR Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 12860912 2003
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2678474
Disease:
CARDIOMYOPATHY, DILATED, 2A (disorder) 		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: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2678474
Disease:
CARDIOMYOPATHY, DILATED, 2A (disorder) 		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: C2678474
Disease:
CARDIOMYOPATHY, DILATED, 2A (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2678474
Disease:
CARDIOMYOPATHY, DILATED, 2A (disorder) 		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: C2678474
Disease:
CARDIOMYOPATHY, DILATED, 2A (disorder) 		T 0.700 GeneticVariation CLINVAR Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 21511876 2011
dbSNP: rs397516359
rs397516359
Entrez Id: 7137;101930593
Gene Symbol: TNNI3;LOC101930593
TNNI3;LOC101930593
CUI: C2678474
Disease:
CARDIOMYOPATHY, DILATED, 2A (disorder) 		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: rs397516359
rs397516359
Entrez Id: 7137;101930593
Gene Symbol: TNNI3;LOC101930593
TNNI3;LOC101930593
CUI: C2678474
Disease:
CARDIOMYOPATHY, DILATED, 2A (disorder) 		0.700 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512 2012
dbSNP: rs104894724
rs104894724
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.800 GeneticVariation UNIPROT Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277 1997
dbSNP: rs104894724
rs104894724
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs104894724
rs104894724
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.800 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
dbSNP: rs104894724
rs104894724
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs104894724
rs104894724
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894724
rs104894724
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.800 GeneticVariation UNIPROT Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739 2003
dbSNP: rs104894724
rs104894724
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs104894724
rs104894724
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.800 GeneticVariation UNIPROT Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 11815426 2002
dbSNP: rs104894724
rs104894724
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.800 GeneticVariation UNIPROT Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542 2005