Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267608468
rs267608468
CDKL5
2 0.925 0.080 X 18579945 missense variant A/G snv 0.700 1.000 18 2003 2017
dbSNP: rs267608493
rs267608493
CDKL5
5 0.827 0.200 X 18584331 missense variant C/A;T snv 0.700 1.000 18 2003 2017
dbSNP: rs267608501
rs267608501
CDKL5
3 0.882 0.160 X 18587986 missense variant C/T snv 0.700 1.000 18 2003 2017
dbSNP: rs267608511
rs267608511
CDKL5
2 0.925 0.160 X 18588058 missense variant T/C snv 0.700 1.000 18 2003 2017
dbSNP: rs267608611
rs267608611
CDKL5
1 1.000 0.040 X 18604120 missense variant A/C snv 1.1E-05 9.5E-06 0.700 1.000 18 2003 2017
dbSNP: rs61749700
rs61749700
CDKL5
3 0.882 0.200 X 18584324 missense variant A/T snv 0.700 1.000 18 2003 2017
dbSNP: rs61749704
rs61749704
CDKL5
2 0.925 0.160 X 18584338 missense variant C/T snv 0.700 1.000 18 2003 2017
dbSNP: rs773760466
rs773760466
CDKL5
1 1.000 0.040 X 18628446 missense variant C/T snv 3.8E-05 1.9E-05 0.700 1.000 18 2003 2017
dbSNP: rs866859766
rs866859766
RS1 ; CDKL5
1 1.000 0.040 X 18650592 missense variant G/A;T snv 5.5E-06; 5.5E-06 0.700 1.000 18 2003 2017
dbSNP: rs122460157
rs122460157
CDKL5
3 0.882 0.200 X 18581942 missense variant G/A;T snv 0.700 0
dbSNP: rs122460159
rs122460159
CDKL5
6 0.807 0.200 X 18564496 missense variant C/T snv 0.700 0
dbSNP: rs267606713
rs267606713
CDKL5
2 0.925 0.160 X 18598499 missense variant C/T snv 0.700 0
dbSNP: rs267606714
rs267606714
CDKL5
2 0.925 0.160 X 18598508 missense variant G/A snv 0.700 0
dbSNP: rs267606715
rs267606715
CDKL5
2 0.925 0.160 X 18584332 missense variant G/A;C snv 0.700 0
dbSNP: rs267608653
rs267608653
CDKL5
2 0.925 0.160 X 18609570 missense variant G/A snv 0.700 0
dbSNP: rs62641235
rs62641235
CDKL5
4 0.851 0.200 X 18575423 missense variant T/A;C snv 0.700 0
dbSNP: rs62643617
rs62643617
CDKL5
1 1.000 0.040 X 18625129 missense variant T/C snv 5.5E-06 0.700 0
dbSNP: rs1135401736
rs1135401736
SCN1B
3 0.882 0.040 19 35033664 missense variant C/T snv 7.0E-06 0.020 1.000 2 2009 2012
dbSNP: rs121917984
rs121917984
SCN1A ; SCN1A-AS1
8 0.790 0.080 2 166052869 missense variant G/A;C snv 0.020 1.000 2 2019 2020
dbSNP: rs121918811
rs121918811
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.080 2 165992306 missense variant G/A snv 7.0E-06 0.020 1.000 2 2013 2018
dbSNP: rs794726759
rs794726759
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 165992342 stop gained G/A snv 0.020 1.000 2 2013 2018
dbSNP: rs121909674
rs121909674
GABRG2
8 0.790 0.080 5 162153132 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs121917918
rs121917918
SCN1A ; SCN1A-AS1
4 0.851 0.040 2 166058651 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121917921
rs121917921
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 165991927 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs121917935
rs121917935
SCN1A ; SCN1A-AS1
4 0.851 0.040 2 166054660 missense variant C/A;T snv 0.010 1.000 1 2010 2010