Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908295
rs121908295
GBA
0.800 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs121908305
rs121908305
GBA
0.800 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs121908306
rs121908306
GBA
0.800 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs121908295
rs121908295
GBA
0.800 GeneticVariation UNIPROT Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl. 21098288

2010
dbSNP: rs121908305
rs121908305
GBA
0.800 GeneticVariation UNIPROT Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl. 21098288

2010
dbSNP: rs121908306
rs121908306
GBA
0.800 GeneticVariation UNIPROT Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl. 21098288

2010
dbSNP: rs121908295
rs121908295
GBA
0.800 GeneticVariation UNIPROT Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006
dbSNP: rs121908305
rs121908305
GBA
0.800 GeneticVariation UNIPROT Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006
dbSNP: rs121908306
rs121908306
GBA
0.800 GeneticVariation UNIPROT Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006
dbSNP: rs121908295
rs121908295
GBA
0.800 GeneticVariation UNIPROT Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875

2000
dbSNP: rs121908305
rs121908305
GBA
0.800 GeneticVariation UNIPROT Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875

2000
dbSNP: rs121908306
rs121908306
GBA
0.800 GeneticVariation UNIPROT Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875

2000
dbSNP: rs121908295
rs121908295
GBA
0.800 GeneticVariation UNIPROT Six new Gaucher disease mutations. 9554454

1998
dbSNP: rs121908295
rs121908295
GBA
0.800 GeneticVariation UNIPROT Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient. 9637431

1998
dbSNP: rs121908295
rs121908295
GBA
0.800 GeneticVariation UNIPROT A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease. 9851895

1998
dbSNP: rs121908305
rs121908305
GBA
0.800 GeneticVariation UNIPROT Six new Gaucher disease mutations. 9554454

1998
dbSNP: rs121908305
rs121908305
GBA
0.800 GeneticVariation UNIPROT A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease. 9851895

1998
dbSNP: rs121908305
rs121908305
GBA
0.800 GeneticVariation UNIPROT Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient. 9637431

1998
dbSNP: rs121908306
rs121908306
GBA
0.800 GeneticVariation UNIPROT Six new Gaucher disease mutations. 9554454

1998
dbSNP: rs121908306
rs121908306
GBA
0.800 GeneticVariation UNIPROT Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient. 9637431

1998
dbSNP: rs121908306
rs121908306
GBA
0.800 GeneticVariation UNIPROT A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease. 9851895

1998
dbSNP: rs121908295
rs121908295
GBA
0.800 GeneticVariation UNIPROT Mutation analysis in 46 British and Irish patients with Gaucher's disease. 9279145

1997
dbSNP: rs121908305
rs121908305
GBA
0.800 GeneticVariation UNIPROT Mutation analysis in 46 British and Irish patients with Gaucher's disease. 9279145

1997
dbSNP: rs121908306
rs121908306
GBA
0.800 GeneticVariation UNIPROT Mutation analysis in 46 British and Irish patients with Gaucher's disease. 9279145

1997
dbSNP: rs121908295
rs121908295
GBA
0.800 GeneticVariation UNIPROT Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease. 7627192

1995