Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730880750
rs730880750
MYH7
CUI: C0023213
Disease: Ventricular Outflow Obstruction, Left
Ventricular Outflow Obstruction, Left 		0.010 GeneticVariation BEFREE The proband patient with P106fs and R869C double mutation was diagnosed as having HCM at an earlier age (28 years of age) than her relatives with single mutation, and had greater wall thickness with left ventricular outflow obstruction. 21799269

2011