TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894724
rs104894724
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894725
rs104894725
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104894727
rs104894727
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397516353
rs397516353
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		T 0.800 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: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		T 0.800 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: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		T 0.800 GeneticVariation CLINVAR Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 21511876 2011
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		T 0.800 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: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		T 0.800 GeneticVariation CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392 2004
dbSNP: rs727504242
rs727504242
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs104894728
rs104894728
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267607127
rs267607127
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267607128
rs267607128
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		A 0.700 CausalMutation CLINVAR
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: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		A 0.700 GeneticVariation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680 2012
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		A 0.700 CausalMutation CLINVAR
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		A 0.700 GeneticVariation CLINVAR Homozygous mutation in the cardiac troponin I gene: clinical heterogeneity in hypertrophic cardiomyopathy. 23270746 2013
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		A 0.700 GeneticVariation CLINVAR Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy. 11735257 2001
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		A 0.700 GeneticVariation CLINVAR Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 10806205 2000
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		A 0.700 GeneticVariation CLINVAR Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy. 21799269 2011
dbSNP: rs397516349
rs397516349
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs727503504
rs727503504
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		C 0.700 GeneticVariation CLINVAR
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