Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypertrophic obstructive cardiomyopathy
0.010 GeneticVariation BEFREE Four of the 5 missense mutations were novel (Arg134Gly, Arg151Cys, Arg159Gln, and Arg205Trp), and one was previously reported with hypertrophic cardiomyopathy (Glu244Asp). 20031601 2009