Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2230288
rs2230288
GBA
0.700 GeneticVariation UNIPROT Gaucher disease in Spanish patients: analysis of eight mutations. 7627184

1995
dbSNP: rs2230288
rs2230288
GBA
0.700 GeneticVariation UNIPROT Identification of six new Gaucher disease mutations. 8432537

1993
dbSNP: rs2230288
rs2230288
GBA
0.700 GeneticVariation UNIPROT A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. 8294033

1993
dbSNP: rs2230288
rs2230288
GBA
0.700 GeneticVariation UNIPROT Three unique base pair changes in a family with Gaucher disease. 1864608

1991
dbSNP: rs2230288
rs2230288
GBA
0.700 GeneticVariation UNIPROT Sequence of two alleles responsible for Gaucher disease. 1972019

1990
dbSNP: rs2230288
rs2230288
GBA
0.700 GeneticVariation UNIPROT Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. 1974409

1990