Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 26
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs364897
GBA
0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04 6
rs145873635
ASAH1
0.851 0.160 8 18075541 missense variant G/A snv 1.2E-05 3.5E-05 4
rs545986367
CSTB
0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06 4
rs796943858
CSTB
0.882 0.080 21 43774280 frameshift variant GA/- delins 2.0E-05 5.6E-05 4
rs535896234
GBA
0.882 0.120 1 155237399 missense variant T/C snv 1.8E-04 3.5E-05 3
rs141554661
LRRC37A2 ; GOSR2
0.925 0.040 17 46932200 splice donor variant G/A snv 1.0E-04 2.6E-04 3
rs121909053
SERPINI1
0.882 0.120 3 167825265 missense variant G/A snv 3
rs104893950
EPM2A
0.925 0.080 6 145627691 stop gained G/A;C snv 7.7E-05 2
rs387907261
KCTD7
0.925 0.040 7 66639180 missense variant A/G;T snv 2
rs200053119
SCARB2
0.925 0.040 4 76181016 stop gained G/A snv 8.0E-06 2.8E-05 2
rs1569006250
CSTB
1.000 0.040 21 43776206 stop gained G/A snv 1
rs781291421
EPM2A
1.000 0.040 6 145635468 stop gained C/A;T snv 1.2E-05; 2.8E-05 1
rs1568177307
GOSR2 ; LRRC37A2
1.000 0.040 17 46935027 splice acceptor variant A/G snv 1
rs141191660
KCTD7
1.000 0.040 7 66639189 missense variant A/G snv 1.2E-05 7.0E-06 1
rs1282461046
SLC38A2
1.000 0.040 12 46364420 missense variant C/T snv 1