Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503503
rs727503503
TNNI3
0.710 GeneticVariation BEFREE We have identified a novel disease-causing p.Leu144His mutation and a de novo p.Arg170Gln mutation associated with RCM and focal ventricular hypertrophy, often below the typical diagnostic threshold for HCM. 25940119

2016
dbSNP: rs727503503
rs727503503
TNNI3
T 0.710 CausalMutation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618

2009
dbSNP: rs727503503
rs727503503
TNNI3
T 0.710 CausalMutation CLINVAR Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. 17599605

2007