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: rs1555955296
rs1555955296
CDKL5
17 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
dbSNP: rs122460159
rs122460159
CDKL5
6 0.807 0.200 X 18564496 missense variant C/T snv 0.700 1.000 6 2008 2017
dbSNP: rs267608493
rs267608493
CDKL5
5 0.827 0.200 X 18584331 missense variant C/A;T snv 0.700 0
dbSNP: rs62653623
rs62653623
CDKL5
5 0.851 0.240 X 18575383 stop gained C/T snv 0.710 1.000 1 2019 2019
dbSNP: rs587783405
rs587783405
CDKL5
9 0.851 0.160 X 18588021 stop gained C/T 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: rs122460157
rs122460157
CDKL5
3 0.882 0.200 X 18581942 missense variant G/A;T snv 0.700 0
dbSNP: rs267608472
rs267608472
CDKL5
3 0.882 0.160 X 18579965 stop gained C/T snv 0.700 0
dbSNP: rs267608501
rs267608501
CDKL5
3 0.882 0.160 X 18587986 missense variant C/T snv 0.700 0
dbSNP: rs61749700
rs61749700
CDKL5
3 0.882 0.200 X 18584324 missense variant A/T snv 0.700 0
dbSNP: rs62643608
rs62643608
CDKL5
3 0.882 0.200 X 18575390 frameshift variant T/- delins 0.700 0
dbSNP: rs267606715
rs267606715
CDKL5
2 0.925 0.160 X 18584332 missense variant G/A;C snv 0.700 1.000 9 2005 2018
dbSNP: rs267608511
rs267608511
CDKL5
2 0.925 0.160 X 18588058 missense variant T/C snv 0.700 1.000 3 2008 2012
dbSNP: rs267608395
rs267608395
CDKL5
2 0.925 0.200 X 18604599 stop gained C/T snv 0.700 1.000 1 2009 2009
dbSNP: rs62643614
rs62643614
CDKL5
2 0.925 0.200 X 18619932 frameshift variant G/- delins 0.700 1.000 1 2005 2005
dbSNP: rs122460158
rs122460158
CDKL5
2 0.925 0.200 X 18628374 stop gained 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: rs267608421
rs267608421
CDKL5
2 0.925 0.160 X 18510855 splice donor variant G/T snv 0.700 0
dbSNP: rs267608433
rs267608433
CDKL5
2 0.925 0.200 X 18575368 frameshift variant GAAA/- delins 0.700 0
dbSNP: rs267608437
rs267608437
CDKL5
2 0.925 0.200 X 18575407 missense variant C/T snv 0.700 0
dbSNP: rs267608618
rs267608618
CDKL5
2 0.925 0.160 X 18604162 stop gained C/A;G snv 0.700 0
dbSNP: rs267608643
rs267608643
CDKL5
2 0.925 0.200 X 18604572 stop gained C/T snv 0.700 0
dbSNP: rs267608653
rs267608653
CDKL5
2 0.925 0.160 X 18609570 missense variant G/A snv 0.700 0
dbSNP: rs61749704
rs61749704
CDKL5
2 0.925 0.160 X 18584338 missense variant C/T snv 0.700 0