Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516457
rs397516457
TNNT2
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516457
rs397516457
TNNT2
T 0.700 CausalMutation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503

2011
dbSNP: rs397516457
rs397516457
TNNT2
A 0.700 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction. 14722098

2004
dbSNP: rs397516457
rs397516457
TNNT2
A 0.700 CausalMutation CLINVAR Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization. 14654368

2003
dbSNP: rs397516457
rs397516457
TNNT2
T 0.700 CausalMutation CLINVAR Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. 11606294

2001
dbSNP: rs397516457
rs397516457
TNNT2
A 0.700 CausalMutation CLINVAR Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy. 10978365

2000
dbSNP: rs397516457
rs397516457
TNNT2
A 0.700 CausalMutation CLINVAR A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. 10525521

1999
dbSNP: rs397516457
rs397516457
TNNT2
T 0.700 CausalMutation CLINVAR The chromosome, its anatomy, and its aberrations. 2003160

1991