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: rs727503506
rs727503506
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 GeneticVariation CLINVAR Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing. 28498465 2017
dbSNP: rs727503506
rs727503506
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 GeneticVariation CLINVAR Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 28790153 2017
dbSNP: rs727504242
rs727504242
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs727504285
rs727504285
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		C 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs104894727
rs104894727
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 GeneticVariation CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223 2016
dbSNP: rs104894727
rs104894727
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223 2016
dbSNP: rs397516353
rs397516353
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR A Double Heterozygous Mutation of TNNI3 Causes Hypertrophic Cardiomyopathy in a Han Chinese Family. 26506446 2016
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. 27600940 2016
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy. 25940119 2016
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. 27600940 2016
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy. 25940119 2016
dbSNP: rs727503503
rs727503503
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 CausalMutation CLINVAR Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy. 25940119 2016
dbSNP: rs104894729
rs104894729
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685 2015
dbSNP: rs397516347
rs397516347
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 CausalMutation CLINVAR A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies. 26440512 2015
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		G 0.700 GeneticVariation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685 2015
dbSNP: rs727503504
rs727503504
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies. 26440512 2015
dbSNP: rs727503506
rs727503506
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 GeneticVariation CLINVAR Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan. 25086479 2015
dbSNP: rs104894727
rs104894727
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 GeneticVariation CLINVAR Genetics of hypertrophic cardiomyopathy in Norway. 24111713 2014
dbSNP: rs104894727
rs104894727
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 GeneticVariation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337 2014
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		A 0.700 GeneticVariation CLINVAR Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. 24113344 2014
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		A 0.700 GeneticVariation CLINVAR Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. 24113344 2014
dbSNP: rs397516347
rs397516347
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 24510615 2014
dbSNP: rs397516347
rs397516347
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337 2014
dbSNP: rs397516349
rs397516349
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 CausalMutation CLINVAR Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 25132132 2014
dbSNP: rs397516349
rs397516349
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 CausalMutation CLINVAR Genetics of hypertrophic cardiomyopathy in Norway. 24111713 2014