Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76763715
rs76763715
GBA
0.850 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009

dbSNP: rs76763715
rs76763715
GBA
0.850 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057

2008

dbSNP: rs421016
rs421016
GBA
0.850 GeneticVariation UNIPROT

dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009

dbSNP: rs75822236
rs75822236
GBA
0.810 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009

dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057

2008

dbSNP: rs75822236
rs75822236
GBA
0.810 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057

2008

dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006

dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006

dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Use of fluorescent substrates for characterization of Gaucher disease mutations. 15916907

2005

dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Use of fluorescent substrates for characterization of Gaucher disease mutations. 15916907

2005

dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype. 15292921

2004

dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype. 15292921

2004

dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202

2002

dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. 12204005

2002

dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. 12204005

2002

dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202

2002

dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875

2000

dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875

2000

dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? 10352942

1999

dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online. 10447266

1999

dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online. 10447266

1999

dbSNP: rs364897
rs364897
GBA
0.810 GeneticVariation UNIPROT Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? 10352942

1999

dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT Six new Gaucher disease mutations. 9554454

1998

dbSNP: rs121908314
rs121908314
GBA
0.810 GeneticVariation UNIPROT A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs. 9650766

1998