Gene: GBA ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853321
rs878853321
GBA
G 0.800 GeneticVariation CLINVAR

dbSNP: rs878853320
rs878853320
GBA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853317
rs878853317
GBA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853315
rs878853315
GBA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853314
rs878853314
GBA
G 0.700 GeneticVariation CLINVAR

dbSNP: rs80356772
rs80356772
GBA
T 0.700 CausalMutation CLINVAR

dbSNP: rs80356772
rs80356772
GBA
T 0.700 GeneticVariation CLINVAR

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 Genetic diagnosis of Gaucher's disease. 1348297

1992
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 Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease. 24522292

2014
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature. 24482953

2013
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Sequence of two alleles responsible for Gaucher disease. 1972019

1990
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 Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. 8294487

1994
dbSNP: rs80356771
rs80356771
GBA
A 0.800 CausalMutation CLINVAR Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. 12595585

2003
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: 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 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 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 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 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: rs80356768
rs80356768
GBA
G 0.700 CausalMutation CLINVAR