rs727503503, TNNI3

N. diseases: 5
Disease: Ventricular hypertrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ventricular hypertrophy
CUI: C0340279
Disease: Ventricular hypertrophy
0.010 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