Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503513
rs727503513
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007196
Disease:
Restrictive cardiomyopathy
A 0.700 GeneticVariation CLINVAR A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. 10525521 1999