Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123012
rs398123012
GBA2
0.800 GeneticVariation UNIPROT Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. 30308956

2018
dbSNP: rs398123015
rs398123015
CREB3 ; GBA2
0.800 GeneticVariation UNIPROT Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. 30308956

2018
dbSNP: rs398123064
rs398123064
GBA2
G 0.800 GeneticVariation CLINVAR Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. 30308956

2018
dbSNP: rs398123012
rs398123012
GBA2
0.800 GeneticVariation UNIPROT Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46). 26220345

2015
dbSNP: rs398123012
rs398123012
GBA2
A 0.800 GeneticVariation CLINVAR Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46). 26220345

2015
dbSNP: rs398123015
rs398123015
CREB3 ; GBA2
T 0.800 GeneticVariation CLINVAR Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46). 26220345

2015
dbSNP: rs398123015
rs398123015
CREB3 ; GBA2
0.800 GeneticVariation UNIPROT Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46). 26220345

2015
dbSNP: rs398123064
rs398123064
GBA2
G 0.800 GeneticVariation CLINVAR Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46). 26220345

2015
dbSNP: rs398123012
rs398123012
GBA2
0.800 GeneticVariation UNIPROT A novel GBA2 gene missense mutation in spastic ataxia. 24252062

2014
dbSNP: rs398123015
rs398123015
CREB3 ; GBA2
0.800 GeneticVariation UNIPROT A novel GBA2 gene missense mutation in spastic ataxia. 24252062

2014
dbSNP: rs398123064
rs398123064
GBA2
G 0.800 GeneticVariation CLINVAR A novel GBA2 gene missense mutation in spastic ataxia. 24252062

2014
dbSNP: rs398123012
rs398123012
GBA2
A 0.800 GeneticVariation CLINVAR Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. 23332916

2013
dbSNP: rs398123012
rs398123012
GBA2
0.800 GeneticVariation UNIPROT Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. 23332917

2013
dbSNP: rs398123012
rs398123012
GBA2
0.800 GeneticVariation UNIPROT Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. 23332916

2013
dbSNP: rs398123015
rs398123015
CREB3 ; GBA2
0.800 GeneticVariation UNIPROT Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. 23332917

2013
dbSNP: rs398123015
rs398123015
CREB3 ; GBA2
0.800 GeneticVariation UNIPROT Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. 23332916

2013
dbSNP: rs398123015
rs398123015
CREB3 ; GBA2
T 0.800 GeneticVariation CLINVAR Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. 23332917

2013
dbSNP: rs398123012
rs398123012
GBA2
A 0.800 CausalMutation CLINVAR

dbSNP: rs398123015
rs398123015
CREB3 ; GBA2
T 0.800 CausalMutation CLINVAR

dbSNP: rs398123064
rs398123064
GBA2
G 0.800 CausalMutation CLINVAR

dbSNP: rs398123064
rs398123064
GBA2
0.800 GeneticVariation UNIPROT

dbSNP: rs398123013
rs398123013
GBA2
A 0.700 CausalMutation CLINVAR Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46). 26220345

2015
dbSNP: rs398123014
rs398123014
GBA2
A 0.700 CausalMutation CLINVAR Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46). 26220345

2015
dbSNP: rs398123013
rs398123013
GBA2
A 0.700 CausalMutation CLINVAR Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. 23332917

2013
dbSNP: rs398123014
rs398123014
GBA2
A 0.700 CausalMutation CLINVAR Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. 23332917

2013