Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064651
rs1064651
GBA
0.010 GeneticVariation BEFREE D409H homozygosity has, so far, been associated with a unique type III subtype of Gaucher disease that is characterized by the presence of devastating valvular heart disease, oculomotor apraxia, and, sometimes, features normally associated with mucopolysaccharidoses or oligosaccharidoses. 11814305

2003