GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064651
rs1064651
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
0.800 GeneticVariation UNIPROT
dbSNP: rs1064651
rs1064651
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
G 0.800 CausalMutation CLINVAR
dbSNP: rs104886460
rs104886460
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
T 0.700 CausalMutation CLINVAR
dbSNP: rs1064644
rs1064644
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
G 0.700 CausalMutation CLINVAR
dbSNP: rs121908311
rs121908311
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
T 0.700 CausalMutation CLINVAR
dbSNP: rs364897
rs364897
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
C 0.700 CausalMutation CLINVAR
dbSNP: rs381418
rs381418
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
C 0.700 CausalMutation CLINVAR
dbSNP: rs387906315
rs387906315
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
GC 0.700 CausalMutation CLINVAR
dbSNP: rs398123527
rs398123527
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
G 0.700 GeneticVariation CLINVAR
dbSNP: rs398123530
rs398123530
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
A 0.700 CausalMutation CLINVAR
dbSNP: rs398123532
rs398123532
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
A 0.700 CausalMutation CLINVAR
dbSNP: rs409652
rs409652
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
T 0.700 CausalMutation CLINVAR
dbSNP: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
G 0.700 CausalMutation CLINVAR
dbSNP: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
C 0.700 GeneticVariation CLINVAR
dbSNP: rs74500255
rs74500255
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
T 0.700 CausalMutation CLINVAR
dbSNP: rs75822236
rs75822236
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
T 0.700 CausalMutation CLINVAR
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
C 0.700 CausalMutation CLINVAR
dbSNP: rs78973108
rs78973108
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
T 0.700 CausalMutation CLINVAR
dbSNP: rs80356769
rs80356769
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
A 0.700 CausalMutation CLINVAR
dbSNP: rs80356771
rs80356771
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
A 0.700 CausalMutation CLINVAR
dbSNP: rs80356772
rs80356772
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1856476
Disease:
Gaucher Disease, Type Iiic
T 0.700 CausalMutation CLINVAR