TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder) ×
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: 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 Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 21511876 2011
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 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 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 CausalMutation CLINVAR