Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75822236
rs75822236
GBA
T 0.710 CausalMutation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006
dbSNP: rs75822236
rs75822236
GBA
T 0.710 CausalMutation CLINVAR Identification of six new Gaucher disease mutations. 8432537

1993