Gene: GBA ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1141814
rs1141814
GBA
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908298
rs121908298
GBA
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908299
rs121908299
GBA
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908302
rs121908302
GBA
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908304
rs121908304
GBA
A 0.800 CausalMutation CLINVAR

dbSNP: rs398123530
rs398123530
GBA
A 0.800 CausalMutation CLINVAR

dbSNP: rs398123532
rs398123532
GBA
A 0.800 CausalMutation CLINVAR

dbSNP: rs74598136
rs74598136
GBA
A 0.800 CausalMutation CLINVAR

dbSNP: rs747506979
rs747506979
GBA
A 0.800 GeneticVariation CLINVAR

dbSNP: rs76539814
rs76539814
GBA
A 0.800 CausalMutation CLINVAR

dbSNP: rs77369218
rs77369218
GBA
A 0.800 GeneticVariation CLINVAR

dbSNP: rs78396650
rs78396650
GBA
A 0.800 CausalMutation CLINVAR

dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. 8294487

1994
dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875

2000
dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006
dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. 21257328

2011
dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene. 2508065

1989
dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR V394L, G377S, and N188S are mutations that have previously been associated with non-neuronopathic Gaucher disease. 12595585

2003
dbSNP: rs80356769
rs80356769
GBA
A 0.800 CausalMutation CLINVAR

dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Genetic diagnosis of Gaucher's disease. 1348297

1992
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. 18586596

2008
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? 8118463

1994
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Characterization of human glucocerebrosidase from different mutant alleles. 1704891

1991
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Mutation analysis in 46 British and Irish patients with Gaucher's disease. 9279145

1997
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Sequence of two alleles responsible for Gaucher disease. 1972019

1990