Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516354
rs397516354
TNNI3
G 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516354
rs397516354
TNNI3
G 0.700 CausalMutation CLINVAR Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. 28356264

2017
dbSNP: rs397516354
rs397516354
TNNI3
G 0.700 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
dbSNP: rs397516354
rs397516354
TNNI3
G 0.700 CausalMutation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680

2012
dbSNP: rs397516354
rs397516354
TNNI3
G 0.700 CausalMutation 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
TNNI3
T 0.700 CausalMutation 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
TNNI3
G 0.700 CausalMutation CLINVAR Genetic basis of end-stage hypertrophic cardiomyopathy. 21896538

2011
dbSNP: rs397516354
rs397516354
TNNI3
G 0.700 CausalMutation CLINVAR Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy. 21799269

2011
dbSNP: rs397516354
rs397516354
TNNI3
T 0.700 CausalMutation CLINVAR Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 16352453

2006
dbSNP: rs397516354
rs397516354
TNNI3
G 0.700 CausalMutation CLINVAR Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 16352453

2006
dbSNP: rs397516354
rs397516354
TNNI3
G 0.700 CausalMutation CLINVAR Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. 15698845

2005
dbSNP: rs397516354
rs397516354
TNNI3
T 0.700 CausalMutation CLINVAR Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005
dbSNP: rs397516354
rs397516354
TNNI3
G 0.700 CausalMutation CLINVAR Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China. 15992656

2005
dbSNP: rs397516354
rs397516354
TNNI3
T 0.700 CausalMutation CLINVAR Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. 15698845

2005
dbSNP: rs397516354
rs397516354
TNNI3
T 0.700 CausalMutation CLINVAR Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China. 15992656

2005
dbSNP: rs397516354
rs397516354
TNNI3
G 0.700 CausalMutation CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392

2004
dbSNP: rs397516354
rs397516354
TNNI3
T 0.700 CausalMutation CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392

2004
dbSNP: rs397516354
rs397516354
TNNI3
T 0.700 CausalMutation CLINVAR Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 12860912

2003
dbSNP: rs397516354
rs397516354
TNNI3
G 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs397516354
rs397516354
TNNI3
G 0.700 CausalMutation CLINVAR Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy. 11735257

2001
dbSNP: rs397516354
rs397516354
TNNI3
G 0.700 CausalMutation CLINVAR Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 10806205

2000
dbSNP: rs397516354
rs397516354
TNNI3
G 0.700 CausalMutation CLINVAR Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277

1997