Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516353
rs397516353
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516353
rs397516353
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
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: rs397516353
rs397516353
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
dbSNP: rs397516353
rs397516353
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Advanced heart failure with preserved systolic function in nonobstructive hypertrophic cardiomyopathy: under-recognized subset of candidates for heart transplant. 25239116

2014
dbSNP: rs397516353
rs397516353
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression. 24704860

2014
dbSNP: rs397516353
rs397516353
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Genetics of hypertrophic cardiomyopathy in Norway. 24111713

2014
dbSNP: rs397516353
rs397516353
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013
dbSNP: rs397516353
rs397516353
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy. 21533915

2011
dbSNP: rs397516353
rs397516353
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Low prevalence and variable clinical presentation of troponin I and troponin T gene mutations in hypertrophic cardiomyopathy. 19645627

2009
dbSNP: rs397516353
rs397516353
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Malignant mutations in hypertrophic cardiomyopathy: fact or fancy? 16335287

2005
dbSNP: rs397516353
rs397516353
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392

2004
dbSNP: rs397516353
rs397516353
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003