Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555546796
ARHGEF15
1.000 0.040 17 8313029 inframe deletion GTCCCCCGTCGGGCC/- del 1
rs398122854
ARX
0.882 0.040 X 25015657 stop gained G/C snv 3
rs1060503108
CACNA2D2
1.000 0.040 3 50387592 frameshift variant TA/- delins 1
rs122460159
CDKL5
0.807 0.200 X 18564496 missense variant C/T snv 6
rs1555951141
CDKL5
1.000 0.040 X 18595354 frameshift variant G/TC delins 1
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 14
rs1060499553
GABRA1
0.827 0.040 5 161890983 missense variant G/A snv 6
rs796052491
GABRA1
0.851 0.040 5 161890982 missense variant T/A;C snv 4
rs796052493
GABRA1
0.851 0.040 5 161895668 missense variant G/A;T snv 4
rs587777057
GNAO1
0.827 0.040 16 56336744 missense variant G/A snv 8
rs797045599
GNAO1
0.882 0.040 16 56336817 missense variant C/T snv 3
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv 9
rs1057516085
KCNQ2
0.827 0.080 20 63444747 missense variant C/T snv 8
rs74315391
KCNQ2
0.827 0.120 20 63444730 missense variant G/A snv 6
rs886041262
KCNQ2
0.851 0.080 20 63444720 missense variant C/G;T snv 6
rs1057516097
KCNQ2
0.882 0.040 20 63439671 missense variant G/T snv 3
rs118192226
KCNQ2
0.925 0.040 20 63415086 stop gained G/A;T snv 4.2E-06 3
rs1555869758
KCNQ2
1.000 0.040 20 63438654 missense variant T/C snv 3
rs397514581
KCNQ2
0.882 0.040 20 63444711 missense variant C/T snv 3
rs794727740
KCNQ2
0.925 0.040 20 63442429 missense variant C/G;T snv 3
rs864321707
KCNQ2
0.882 0.040 20 63439608 missense variant G/A snv 3
rs886041339
KCNQ2
0.925 0.040 20 63424195 frameshift variant G/-;GG delins 3
rs1057516098
KCNQ2
0.925 0.040 20 63439657 missense variant C/T snv 2
rs118192215
KCNQ2
0.925 0.040 20 63438651 missense variant G/A snv 2
rs118192228
KCNQ2
0.925 0.040 20 63414902 splice donor variant C/T snv 2