Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503503
rs727503503
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618

2009
dbSNP: rs727503503
rs727503503
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. 17599605

2007