Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516357
rs397516357
TNNI3
T 0.710 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516357
rs397516357
TNNI3
0.710 GeneticVariation BEFREE Whole-exome sequencing analysis identified a mutation in TNNI3, R186Q, that co-segregated with the disease in the family, but did not exist in >1583 controls, suggesting that R186Q causes AF and HCM. 26169204

2016
dbSNP: rs397516357
rs397516357
TNNI3
T 0.710 CausalMutation CLINVAR Identification of rare variants in TNNI3 with atrial fibrillation in a Chinese GeneID population. 26169204

2016
dbSNP: rs397516357
rs397516357
TNNI3
T 0.710 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
dbSNP: rs397516357
rs397516357
TNNI3
T 0.710 CausalMutation CLINVAR Dramatically different phenotypic expressions of hypertrophic cardiomyopathy in male cousins undergoing cardiac transplantation with identical disease-causing gene mutation. 23540544

2013
dbSNP: rs397516357
rs397516357
TNNI3
T 0.710 CausalMutation CLINVAR Hypertrophic cardiomyopathy and planned in vitro fertilization. Genetic testing and clinical evaluation. 22301726

2012
dbSNP: rs397516357
rs397516357
TNNI3
T 0.710 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs397516357
rs397516357
TNNI3
T 0.710 CausalMutation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503

2011
dbSNP: rs397516357
rs397516357
TNNI3
T 0.710 CausalMutation CLINVAR Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice. 21239446

2011
dbSNP: rs397516357
rs397516357
TNNI3
T 0.710 CausalMutation CLINVAR Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I. 16020591

2005
dbSNP: rs397516357
rs397516357
TNNI3
T 0.710 CausalMutation CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392

2004
dbSNP: rs397516357
rs397516357
TNNI3
T 0.710 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003