Gene: GBA ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease. 9683600

1998
dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Six new Gaucher disease mutations. 9554454

1998
dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs. 9650766

1998
dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease. 9683600

1998
dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses. 9182788

1997
dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses. 9182788

1997
dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. 8829654

1996
dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. 8829654

1996
dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Gaucher disease in Spanish patients: analysis of eight mutations. 7627184

1995
dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. 7475546

1995
dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Gaucher disease in Spanish patients: analysis of eight mutations. 7627184

1995
dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. 7475546

1995
dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. 8294033

1993
dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Identification of six new Gaucher disease mutations. 8432537

1993
dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. 8294033

1993
dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Identification of six new Gaucher disease mutations. 8432537

1993
dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Three unique base pair changes in a family with Gaucher disease. 1864608

1991
dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Three unique base pair changes in a family with Gaucher disease. 1864608

1991
dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Sequence of two alleles responsible for Gaucher disease. 1972019

1990
dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. 1974409

1990
dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Sequence of two alleles responsible for Gaucher disease. 1972019

1990
dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. 1974409

1990
dbSNP: rs878853321
rs878853321
GBA
0.800 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs878853321
rs878853321
GBA
0.800 GeneticVariation UNIPROT Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S. 24434810

2014
dbSNP: rs878853321
rs878853321
GBA
0.800 GeneticVariation UNIPROT Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1. 24577513

2014