Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 26
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 17
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv 12
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv 12
rs1057521737
EP300
0.827 0.240 22 41173768 missense variant T/C snv 11
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10