Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121917984
SCN1A-AS1 ; SCN1A
0.790 0.080 2 166052869 missense variant G/A;C snv 6
rs62641235
CDKL5
0.851 0.200 X 18575423 missense variant T/A;C snv 4
rs122460157
CDKL5
0.882 0.200 X 18581942 missense variant G/A;T snv 3
rs122460159
CDKL5
0.807 0.200 X 18564496 missense variant C/T snv 3
rs267608493
CDKL5
0.827 0.200 X 18584331 missense variant C/A;T snv 3
rs267608501
CDKL5
0.882 0.160 X 18587986 missense variant C/T snv 3
rs61749700
CDKL5
0.882 0.200 X 18584324 missense variant A/T snv 3
rs121918624
SCN1A-AS1 ; SCN1A
0.827 0.080 2 166052882 stop gained G/A snv 3
rs121918775
SCN1A ; SCN1A-AS1
0.827 0.080 2 166037886 missense variant G/A;T snv 3
rs267606713
CDKL5
0.925 0.160 X 18598499 missense variant C/T snv 2
rs267606714
CDKL5
0.925 0.160 X 18598508 missense variant G/A snv 2
rs267606715
CDKL5
0.925 0.160 X 18584332 missense variant G/A;C snv 2
rs267608468
CDKL5
0.925 0.080 X 18579945 missense variant A/G snv 2
rs267608511
CDKL5
0.925 0.160 X 18588058 missense variant T/C snv 2
rs267608653
CDKL5
0.925 0.160 X 18609570 missense variant G/A snv 2
rs61749704
CDKL5
0.925 0.160 X 18584338 missense variant C/T snv 2
rs121918622
SCN1A-AS1 ; LOC102724058 ; SCN1A
0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 2
rs398123588
SCN1A-AS1 ; SCN1A
0.827 0.080 2 166039436 missense variant C/T snv 8.0E-06 2
rs121918799
SCN1A-AS1 ; SCN1A ; LOC102724058
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 2
rs121917918
SCN1A ; SCN1A-AS1
0.851 0.040 2 166058651 missense variant C/A;T snv 2
rs121917935
SCN1A ; SCN1A-AS1
0.851 0.040 2 166054660 missense variant C/A;T snv 2
rs121917971
SCN1A ; SCN1A-AS1
0.851 0.080 2 166037885 missense variant C/G;T snv 2
rs267608611
CDKL5
1.000 0.040 X 18604120 missense variant A/C snv 1.1E-05 9.5E-06 1
rs62643617
CDKL5
1.000 0.040 X 18625129 missense variant T/C snv 5.5E-06 1
rs773760466
CDKL5
1.000 0.040 X 18628446 missense variant C/T snv 3.8E-05 1.9E-05 1