Gene: GBA ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 Identification of six new Gaucher disease mutations. 8432537

1993
dbSNP: rs75822236
rs75822236
GBA
T 0.810 CausalMutation CLINVAR DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent. 7916532

1994
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 Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells. 9240741

1996
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 Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. 8213821

1993
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: rs121908301
rs121908301
GBA
T 0.800 CausalMutation CLINVAR

dbSNP: rs121908311
rs121908311
GBA
T 0.800 CausalMutation CLINVAR

dbSNP: rs409652
rs409652
GBA
T 0.800 CausalMutation CLINVAR

dbSNP: rs74500255
rs74500255
GBA
T 0.800 CausalMutation CLINVAR

dbSNP: rs77829017
rs77829017
GBA
T 0.800 CausalMutation CLINVAR

dbSNP: rs79653797
rs79653797
GBA
T 0.710 CausalMutation CLINVAR

dbSNP: rs104886460
rs104886460
GBA
T 0.700 CausalMutation CLINVAR Mutations in Jewish patients with Gaucher disease. 1558964

1992
dbSNP: rs104886460
rs104886460
GBA
T 0.700 CausalMutation CLINVAR Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. 12204005

2002
dbSNP: rs104886460
rs104886460
GBA
T 0.700 CausalMutation CLINVAR Clinical and genetic characteristics of Korean patients with Gaucher disease. 20729108

2011
dbSNP: rs104886460
rs104886460
GBA
T 0.700 CausalMutation CLINVAR Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients. 25127542

2014
dbSNP: rs104886460
rs104886460
GBA
T 0.700 CausalMutation CLINVAR The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202

2002
dbSNP: rs1553217946
rs1553217946
GBA
T 0.700 CausalMutation CLINVAR Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. 22493294

2012
dbSNP: rs381737
rs381737
GBA
T 0.700 CausalMutation CLINVAR

dbSNP: rs78973108
rs78973108
GBA
T 0.700 CausalMutation CLINVAR

dbSNP: rs80356772
rs80356772
GBA
T 0.700 CausalMutation CLINVAR

dbSNP: rs80356772
rs80356772
GBA
T 0.700 GeneticVariation CLINVAR