Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 14
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv 13
rs74315390
KCNQ2
0.790 0.120 20 63439609 missense variant C/G;T snv 8
rs104894743
ARX
0.807 0.200 X 25012937 missense variant G/A snv 7
rs1060499553
GABRA1
0.827 0.040 5 161890983 missense variant G/A snv 6
rs796052621
KCNQ2
0.827 0.080 20 63444756 missense variant C/T snv 6
rs267608493
CDKL5
0.827 0.200 X 18584331 missense variant C/A;T snv 5
rs796053134
SCN2A
0.827 0.080 2 165374737 missense variant T/C snv 5
rs796052491
GABRA1
0.851 0.040 5 161890982 missense variant T/A;C snv 4
rs11872992
MC4R
0.851 0.160 18 60373354 intron variant G/A snv 0.12 4
rs387906684
SCN2A
0.851 0.120 2 165367327 stop gained G/A;T snv 4
rs267608472
CDKL5
0.882 0.160 X 18579965 stop gained C/T snv 3
rs2963155
NR3C1
0.882 0.160 5 143376439 intron variant A/G snv 0.24 3
rs4912905
NR3C1
0.925 0.080 5 143350811 intron variant G/C snv 0.20 3
rs370114048
SCN2A
0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06 3
rs267608421
CDKL5
0.925 0.160 X 18510855 splice donor variant G/T snv 2
rs267608618
CDKL5
0.925 0.160 X 18604162 stop gained C/A;G snv 2
rs760270633
DNM1
0.925 0.040 9 128220201 missense variant C/T snv 2
rs1057520644
IL2RG
1.000 0.040 X 71110964 missense variant C/T snv 2
rs760543
LARGE1
0.925 0.080 22 33435602 intron variant C/T snv 0.38 2
rs242948
LINC02210-CRHR1 ; MAPT-AS1 ; CRHR1
0.925 0.080 17 45836178 intron variant G/C;T snv 2
rs10482672
NR3C1
0.925 0.080 5 143312968 intron variant G/A snv 0.15 2
rs6877893
NR3C1
0.925 0.080 5 143347628 intron variant G/A snv 0.52 2