Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907571
rs387907571
0.800 GeneticVariation UNIPROT

dbSNP: rs104886460
rs104886460
GBA
T 0.700 CausalMutation CLINVAR

dbSNP: rs1056737920
rs1056737920
0.700 GeneticVariation UNIPROT

dbSNP: rs1064651
rs1064651
GBA
G 0.700 CausalMutation CLINVAR

dbSNP: rs1237637353
rs1237637353
GBA
G 0.700 CausalMutation CLINVAR

dbSNP: rs1557901552
rs1557901552
GBA
T 0.700 CausalMutation CLINVAR

dbSNP: rs193922928
rs193922928
CTGCTGCTGCTGCTGCTGCTGCTG 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs421016
rs421016
GBA
G 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs421016
rs421016
GBA
G 0.700 CausalMutation CLINVAR

dbSNP: rs63750424
rs63750424
T 0.700 CausalMutation CLINVAR

dbSNP: rs63750756
rs63750756
G 0.700 CausalMutation CLINVAR

dbSNP: rs63751273
rs63751273
T 0.700 CausalMutation CLINVAR

dbSNP: rs63751392
rs63751392
G 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs747427602
rs747427602
0.700 GeneticVariation UNIPROT

dbSNP: rs75671029
rs75671029
GBA
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs75822236
rs75822236
GBA
T 0.700 CausalMutation CLINVAR

dbSNP: rs766013346
rs766013346
0.700 GeneticVariation UNIPROT

dbSNP: rs76763715
rs76763715
GBA
C 0.700 CausalMutation CLINVAR

dbSNP: rs76763715
rs76763715
GBA
C 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs78973108
rs78973108
GBA
T 0.700 CausalMutation CLINVAR

dbSNP: rs80356769
rs80356769
GBA
A 0.700 CausalMutation CLINVAR

dbSNP: rs80356771
rs80356771
GBA
A 0.700 CausalMutation CLINVAR

dbSNP: rs80356771
rs80356771
GBA
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs9697983
rs9697983
G 0.700 CausalMutation CLINVAR

dbSNP: rs2071421
rs2071421
0.010 GeneticVariation BEFREE Ribonuclease protection assay analysis of ASA mRNA transcripts and an investigation into the activity and lysosomal localization of protein expressed by an ASA expression construct containing the N350S variant indicated that both the N350S and polyadenylation defects play a role in biochemically defining the ASA-PD phenotype. 9668161

1998