GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Gaucher Disease, Type 3 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease:
Gaucher Disease, Type 3 (disorder) 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease:
Gaucher Disease, Type 3 (disorder) 		G 0.700 CausalMutation CLINVAR