Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908311
rs121908311
GBA
T 0.700 CausalMutation CLINVAR Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases. 20846888

2011
dbSNP: rs121908311
rs121908311
GBA
T 0.700 CausalMutation CLINVAR Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients. 10757640

2000