rs121913638, MYH7

N. diseases: 4
Disease: Asymmetric Septal Hypertrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Asymmetric Septal Hypertrophy
CUI: C0205700
Disease: Asymmetric Septal Hypertrophy
0.010 GeneticVariation BEFREE One known mutation (p.Gly716Arg) was found to be "de novo" which resulted in severe asymmetric septal hypertrophy (31 mm) and resulted in the sudden cardiac death (SCD) of the proband at the age of 21 years. 18953637 2009