Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 17
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv 16
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv 14
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs139455627
TSPEAR
0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 14