Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912560
rs121912560
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.010 GeneticVariation BEFREE Two missense mutations in MYO6 (p.C442Y and p.H246R) have been characterized in families of Italian and American Caucasian extraction with autosomal dominant hearing loss, respectively, and the latter was associated with cardiomyopathy in some patients. 18348273

2008