Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516347
rs397516347
T 0.700 GeneticVariation CLINVAR Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 24510615

2014

dbSNP: rs397516347
rs397516347
T 0.700 GeneticVariation CLINVAR An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin. 23967088

2013

dbSNP: rs397516347
rs397516347
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: rs397516347
rs397516347
T 0.700 GeneticVariation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680

2012

dbSNP: rs397516347
rs397516347
T 0.700 GeneticVariation 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: rs397516347
rs397516347
T 0.700 GeneticVariation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011

dbSNP: rs397516347
rs397516347
T 0.700 GeneticVariation CLINVAR Low prevalence and variable clinical presentation of troponin I and troponin T gene mutations in hypertrophic cardiomyopathy. 19645627

2009

dbSNP: rs397516347
rs397516347
T 0.700 GeneticVariation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008

dbSNP: rs397516347
rs397516347
T 0.700 GeneticVariation CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392

2004

dbSNP: rs397516347
rs397516347
T 0.700 GeneticVariation CLINVAR Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 12860912

2003

dbSNP: rs397516347
rs397516347
T 0.700 GeneticVariation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003