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: 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: rs747506979
rs747506979
GBA
1 0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 0.800 1.000 2 2008 2009
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: rs398123527
rs398123527
GBA
1 0.827 0.120 1 155236298 missense variant C/G snv 0.800 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: 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: rs77834747
rs77834747
GBA
1 1.000 0.120 1 155238632 missense variant A/C;G snv 7.0E-06 0.700 1.000 29 1990 2014
dbSNP: rs1057519357
rs1057519357
GBA
1 1.000 0.120 1 155235792 missense variant G/A snv 0.700 1.000 20 1990 2006
dbSNP: rs1161552095
rs1161552095
GBA
1 0.925 0.120 1 155236307 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 20 1990 2006
dbSNP: rs121908308
rs121908308
GBA
1 0.925 0.120 1 155236295 missense variant G/A;C snv 8.0E-06 0.700 1.000 20 1990 2006
dbSNP: rs1296507371
rs1296507371
GBA
1 0.925 0.120 1 155237433 missense variant G/T snv 4.0E-06 0.700 1.000 20 1990 2006
dbSNP: rs1362103320
rs1362103320
GBA
1 1.000 0.120 1 155235201 missense variant A/G snv 4.0E-06 0.700 1.000 20 1990 2006
dbSNP: rs1392291885
rs1392291885
GBA
1 1.000 0.120 1 155236255 missense variant C/T snv 2.1E-05 0.700 1.000 20 1990 2006
dbSNP: rs1441909908
rs1441909908
GBA
1 1.000 0.120 1 155238588 missense variant T/G snv 4.0E-06 0.700 1.000 20 1990 2006
dbSNP: rs1450426641
rs1450426641
GBA
1 0.851 0.160 1 155235820 missense variant A/C snv 4.0E-06 0.700 1.000 20 1990 2006
dbSNP: rs1553216985
rs1553216985
GBA
1 1.000 0.120 1 155235721 missense variant A/T snv 0.700 1.000 20 1990 2006
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: 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: rs74979486
rs74979486
GBA
1 1.000 0.120 1 155236276 missense variant C/T snv 7.0E-06 0.700 1.000 20 1990 2006
dbSNP: rs75548401
rs75548401
GBA
1 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.700 1.000 20 1990 2006
dbSNP: rs75564605
rs75564605
GBA
1 1.000 0.120 1 155235747 missense variant A/G snv 0.700 1.000 20 1990 2006
dbSNP: rs76228122
rs76228122
GBA
1 1.000 0.120 1 155236264 missense variant T/C snv 0.700 1.000 20 1990 2006