rs121964860, TNNT2

N. diseases: 3
Disease: Cardiomyopathy, Familial Hypertrophic, 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Familial Hypertrophic, 2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
0.700 CausalMutation CLINVAR Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin. 26498512 2015