Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis. 29527153

2018

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons. 26905200

2016

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR Mutations of glucocerebrosidase gene and susceptibility to Parkinson's disease: An updated meta-analysis in a European population. 26868973

2016

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. 26096741

2015

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR Differential effects of severe vs mild GBA mutations on Parkinson disease. 25653295

2015

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease. 25456120

2014

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. 24756352

2014

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant. 22592100

2012

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. 22451204

2012

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. 19846850

2009

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry. 18979180

2008

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). 18338393

2008

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR Genetic and clinical features of patients with Gaucher disease in Hungary. 17395504

2007

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR "Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and ""modifier"" polymorphisms." 15146461

2004

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875

2000

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. 8294487

1994

dbSNP: rs76763715
rs76763715
GBA
C 0.850 CausalMutation CLINVAR Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. 3353383

1988

dbSNP: rs421016
rs421016
GBA
C 0.850 GeneticVariation CLINVAR

dbSNP: rs421016
rs421016
GBA
G 0.850 CausalMutation CLINVAR

dbSNP: rs75822236
rs75822236
GBA
T 0.810 CausalMutation CLINVAR Most children with the p.N409S/p.N409S and p.N409S/p.R535H GD1 genotypes have minimal disease manifestations and progression during childhood and can be monitored using limited assessments. 27735925

2017

dbSNP: rs75822236
rs75822236
GBA
T 0.810 CausalMutation CLINVAR Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations. 23699752

2013

dbSNP: rs75822236
rs75822236
GBA
T 0.810 CausalMutation CLINVAR A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. 23588557

2013

dbSNP: rs75822236
rs75822236
GBA
T 0.810 CausalMutation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006

dbSNP: rs75822236
rs75822236
GBA
T 0.810 CausalMutation CLINVAR The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation. 12972024

2004

dbSNP: rs75822236
rs75822236
GBA
T 0.810 CausalMutation CLINVAR Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells. 9240741

1996