Source: ALL
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: rs121908295
rs121908295
GBA
2 0.925 0.120 1 155235708 missense variant G/C snv 0.800 1.000 9 1995 2014
dbSNP: rs121908305
rs121908305
GBA
1 1.000 0.120 1 155236379 missense variant C/T snv 8.0E-06 0.800 1.000 9 1995 2014
dbSNP: rs121908306
rs121908306
GBA
1 1.000 0.120 1 155236328 missense variant A/C snv 0.800 1.000 9 1995 2014
dbSNP: rs1064644
rs1064644
GBA
6 0.807 0.120 1 155238192 missense variant A/G snv 8.0E-06 0.800 0
dbSNP: rs398123530
rs398123530
GBA
4 0.851 0.120 1 155238597 missense variant G/A snv 4.0E-06 0.800 0
dbSNP: rs409652
rs409652
GBA
5 0.827 0.120 1 155238174 missense variant C/T snv 3.2E-05 2.1E-05 0.800 0
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.800 0
dbSNP: rs1553217009
rs1553217009
GBA
3 0.882 0.120 1 155235757 missense variant C/T snv 0.700 1.000 9 1995 2014
dbSNP: rs367968666
rs367968666
GBA
3 0.882 0.120 1 155237458 missense variant A/C snv 2.4E-04 1.6E-04 0.700 1.000 9 1995 2014
dbSNP: rs75636769
rs75636769
GBA
1 1.000 0.120 1 155238209 missense variant G/A;T snv 1.6E-05 0.700 1.000 9 1995 2014
dbSNP: rs77284004
rs77284004
GBA
1 1.000 0.120 1 155235813 missense variant T/G snv 0.700 1.000 9 1995 2014
dbSNP: rs77321207
rs77321207
GBA
1 1.000 0.120 1 155236441 missense variant T/C snv 0.700 1.000 9 1995 2014
dbSNP: rs77738682
rs77738682
GBA
1 1.000 0.120 1 155235777 missense variant T/A;C snv 1.6E-05 7.0E-06 0.700 1.000 9 1995 2014
dbSNP: rs104886460
rs104886460
GBA
8 0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05 0.700 0
dbSNP: rs1064651
rs1064651
GBA
13 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.700 0
dbSNP: rs121908311
rs121908311
GBA
5 0.827 0.120 1 155235823 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs364897
rs364897
GBA
6 0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04 0.700 0
dbSNP: rs381418
rs381418
GBA
4 0.851 0.120 1 155238214 missense variant A/C snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs381737
rs381737
GBA
4 0.851 0.120 1 155238141 missense variant A/C;T snv 4.0E-06; 4.4E-05 0.700 0
dbSNP: rs387906315
rs387906315
GBA
8 0.790 0.160 1 155240660 frameshift variant -/C delins 5.2E-05 5.6E-05 0.700 0
dbSNP: rs398123527
rs398123527
GBA
5 0.827 0.120 1 155236298 missense variant C/G snv 0.700 0
dbSNP: rs398123532
rs398123532
GBA
5 0.827 0.120 1 155238270 missense variant G/A snv 1.3E-05 0.700 0
dbSNP: rs61748906
rs61748906
GBA
4 0.851 0.120 1 155238228 missense variant A/G snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs74500255
rs74500255
GBA
4 0.851 0.120 1 155237576 missense variant A/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs75822236
rs75822236
GBA
10 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.700 0