GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104886460
rs104886460
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.700 0
dbSNP: rs1064651
rs1064651
0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.700 0
dbSNP: rs1237637353
rs1237637353
0.925 0.120 1 155237579 splice acceptor variant C/G snv 4.0E-06
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.700 0
dbSNP: rs1557901552
rs1557901552
1.000 1 155235775 missense variant A/T snv
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.700 0
dbSNP: rs421016
rs421016
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.700 0
dbSNP: rs75671029
rs75671029
1.000 1 155235256 missense variant C/T snv 5.2E-04 2.3E-03
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.700 0
dbSNP: rs75822236
rs75822236
0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.700 0
dbSNP: rs76763715
rs76763715
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.700 0
dbSNP: rs78973108
rs78973108
0.776 0.160 1 155237453 missense variant C/T snv 2.8E-05 4.2E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.700 0
dbSNP: rs80356769
rs80356769
0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.700 0
dbSNP: rs80356771
rs80356771
0.776 0.160 1 155235196 missense variant G/A;T snv 7.2E-05; 4.0E-06
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.700 0
dbSNP: rs1450426641
rs1450426641
0.851 0.160 1 155235820 missense variant A/C snv 4.0E-06
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.010 1.000 1 2018 2018
dbSNP: rs2230288
rs2230288
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.010 1.000 1 2016 2016