Gene: GBA ×
Source: UNIPROT ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs149487315
rs149487315
GBA
1 1.000 0.120 1 155236269 missense variant C/T snv 2.7E-04 8.9E-04 0.700 0
dbSNP: rs1553216985
rs1553216985
GBA
1 1.000 0.120 1 155235721 missense variant A/T snv 0.700 1.000 20 1990 2006
dbSNP: rs1553217009
rs1553217009
GBA
2 0.882 0.120 1 155235757 missense variant C/T snv 0.700 1.000 9 1996 2014
dbSNP: rs1553217294
rs1553217294
GBA
1 0.925 0.120 1 155236417 missense variant C/G snv 0.700 1.000 9 1996 2014
dbSNP: rs2230288
rs2230288
GBA
1 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 1.000 31 1990 2014
dbSNP: rs364897
rs364897
GBA
2 0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04 0.810 1.000 20 1990 2006
dbSNP: rs367968666
rs367968666
GBA
2 0.882 0.120 1 155237458 missense variant A/C snv 2.4E-04 1.6E-04 0.700 1.000 9 1996 2014
dbSNP: rs368060
rs368060
GBA
1 0.882 0.200 1 155235217 missense variant C/G snv 1.4E-04 7.7E-04 0.700 1.000 20 1990 2006
dbSNP: rs374591570
rs374591570
GBA
1 1.000 0.120 1 155238258 missense variant G/A snv 4.1E-06 0.700 0
dbSNP: rs377325220
rs377325220
GBA
1 1.000 0.120 1 155238621 missense variant T/C snv 8.0E-06 0.700 0
dbSNP: rs381418
rs381418
GBA
1 0.851 0.120 1 155238214 missense variant A/C snv 1.2E-05 2.8E-05 0.800 0
dbSNP: rs381427
rs381427
GBA
1 1.000 0.120 1 155238206 missense variant A/C;T snv 1.2E-05 0.700 0
dbSNP: rs398123526
rs398123526
GBA
1 0.925 0.120 1 155236409 missense variant C/G;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs398123527
rs398123527
GBA
1 0.827 0.120 1 155236298 missense variant C/G snv 0.800 0
dbSNP: rs398123528
rs398123528
GBA
1 1.000 0.120 1 155235829 missense variant C/A;G snv 4.0E-06 0.700 0
dbSNP: rs398123530
rs398123530
GBA
2 0.851 0.120 1 155238597 missense variant G/A snv 4.0E-06 0.800 0
dbSNP: rs398123532
rs398123532
GBA
1 0.827 0.120 1 155238270 missense variant G/A snv 1.3E-05 0.800 0
dbSNP: rs409652
rs409652
GBA
2 0.827 0.120 1 155238174 missense variant C/T snv 3.2E-05 2.1E-05 0.800 0
dbSNP: rs421016
rs421016
GBA
2 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.850 1.000 0 2011 2019
dbSNP: rs439898
rs439898
GBA
1 0.882 0.120 1 155238630 missense variant G/A snv 2.8E-05 0.700 0
dbSNP: rs61748906
rs61748906
GBA
1 0.851 0.120 1 155238228 missense variant A/G snv 8.0E-06 2.8E-05 0.800 1.000 20 1990 2006
dbSNP: rs74462743
rs74462743
GBA
1 0.925 0.120 1 155238194 missense variant C/T snv 8.0E-06 0.700 1.000 20 1990 2006
dbSNP: rs74500255
rs74500255
GBA
1 0.851 0.120 1 155237576 missense variant A/T snv 1.6E-05 1.4E-05 0.800 1.000 2 2008 2009
dbSNP: rs74598136
rs74598136
GBA
1 0.925 0.120 1 155235750 missense variant G/A snv 0.800 1.000 2 2008 2009
dbSNP: rs74731340
rs74731340
GBA
1 1.000 0.120 1 155237411 missense variant C/T snv 0.700 0