Gene: GBA ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553217009
rs1553217009
GBA
0.700 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs1553217009
rs1553217009
GBA
0.700 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
dbSNP: rs1553217009
rs1553217009
GBA
0.700 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: rs1553217294
rs1553217294
GBA
0.700 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
dbSNP: rs1553217294
rs1553217294
GBA
0.700 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: rs1553217294
rs1553217294
GBA
0.700 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs2230288
rs2230288
GBA
0.700 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: rs2230288
rs2230288
GBA
0.700 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs2230288
rs2230288
GBA
0.700 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
dbSNP: rs367968666
rs367968666
GBA
0.700 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs367968666
rs367968666
GBA
0.700 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: rs367968666
rs367968666
GBA
0.700 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
dbSNP: rs75528494
rs75528494
GBA
0.700 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
dbSNP: rs75528494
rs75528494
GBA
0.700 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: rs75528494
rs75528494
GBA
0.700 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs76071730
rs76071730
GBA
0.700 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
dbSNP: rs76071730
rs76071730
GBA
0.700 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: rs76071730
rs76071730
GBA
0.700 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs765633380
rs765633380
GBA
0.700 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: rs765633380
rs765633380
GBA
0.700 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
dbSNP: rs765633380
rs765633380
GBA
0.700 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs77834747
rs77834747
GBA
0.700 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
dbSNP: rs77834747
rs77834747
GBA
0.700 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: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs80205046
rs80205046
GBA
0.700 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014