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: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease:
Gaucher Disease, Type 3 (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs77369218
rs77369218
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease:
Gaucher Disease, Type 3 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs78016673
rs78016673
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease:
Gaucher Disease, Type 3 (disorder) 		0.700 GeneticVariation UNIPROT
dbSNP: rs78973108
rs78973108
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease:
Gaucher Disease, Type 3 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs80356769
rs80356769
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease:
Gaucher Disease, Type 3 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs80356771
rs80356771
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease:
Gaucher Disease, Type 3 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs80356772
rs80356772
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease:
Gaucher Disease, Type 3 (disorder) 		T 0.700 CausalMutation CLINVAR