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: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
0.850 GeneticVariation UNIPROT
dbSNP: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
C 0.850 GeneticVariation CLINVAR
dbSNP: rs421016
rs421016
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
G 0.850 CausalMutation CLINVAR
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
C 0.810 CausalMutation CLINVAR
dbSNP: rs364897
rs364897
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
C 0.810 CausalMutation CLINVAR
dbSNP: rs1064644
rs1064644
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268250
Disease:
Gaucher Disease, Type 2 (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs1064644
rs1064644
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268250
Disease:
Gaucher Disease, Type 2 (disorder)
G 0.800 CausalMutation CLINVAR
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: rs1064651
rs1064651
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
G 0.800 CausalMutation CLINVAR
dbSNP: rs1141814
rs1141814
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs121908295
rs121908295
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268250
Disease:
Gaucher Disease, Type 2 (disorder)
C 0.800 CausalMutation CLINVAR
dbSNP: rs121908297
rs121908297
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
G 0.800 CausalMutation CLINVAR
dbSNP: rs121908298
rs121908298
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs121908299
rs121908299
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs121908300
rs121908300
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
G 0.800 CausalMutation CLINVAR
dbSNP: rs121908301
rs121908301
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs121908302
rs121908302
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs121908304
rs121908304
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs121908305
rs121908305
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268250
Disease:
Gaucher Disease, Type 2 (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs121908306
rs121908306
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268250
Disease:
Gaucher Disease, Type 2 (disorder)
C 0.800 CausalMutation CLINVAR
dbSNP: rs121908307
rs121908307
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
G 0.800 CausalMutation CLINVAR
dbSNP: rs121908310
rs121908310
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1842704
Disease:
GAUCHER DISEASE, PERINATAL LETHAL
A 0.800 CausalMutation CLINVAR
dbSNP: rs121908311
rs121908311
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs121908312
rs121908312
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1
G 0.800 CausalMutation CLINVAR