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: rs62653623
rs62653623
CDKL5
5 0.851 0.240 X 18575383 stop gained C/T snv 0.710 1.000 1 2019 2019
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: rs122460159
rs122460159
CDKL5
6 0.807 0.200 X 18564496 missense variant C/T snv 0.700 1.000 6 2008 2017
dbSNP: rs267608511
rs267608511
CDKL5
2 0.925 0.160 X 18588058 missense variant T/C snv 0.700 1.000 3 2008 2012
dbSNP: rs1569215629
rs1569215629
CDKL5
1 1.000 0.160 X 18588037 missense variant G/A snv 0.700 1.000 2 2013 2016
dbSNP: rs1555949011
rs1555949011
CDKL5
1 1.000 0.160 X 18575405 frameshift variant TC/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1555955290
rs1555955290
CDKL5
1 1.000 0.160 X 18628701 frameshift variant GA/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1569213054
rs1569213054
CDKL5
1 1.000 0.160 X 18575491 splice donor variant G/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1569215594
rs1569215594
CDKL5
1 1.000 0.160 X 18587982 missense variant T/G snv 0.700 1.000 1 2011 2011
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: rs863225289
rs863225289
CDKL5
1 1.000 0.160 X 18628590 stop gained C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs863225290
rs863225290
CDKL5
1 1.000 0.160 X 18579918 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs1057518203
rs1057518203
CDKL5
1 1.000 0.160 X 18603930 stop gained C/T snv 0.700 0
dbSNP: rs1060501859
rs1060501859
CDKL5
1 1.000 0.160 X 18598460 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1060501860
rs1060501860
CDKL5
1 1.000 0.160 X 18608887 frameshift variant C/- delins 0.700 0
dbSNP: rs122460157
rs122460157
CDKL5
3 0.882 0.200 X 18581942 missense variant G/A;T snv 0.700 0
dbSNP: rs122460158
rs122460158
CDKL5
2 0.925 0.200 X 18628374 stop gained C/T snv 0.700 0
dbSNP: rs1555940536
rs1555940536
CDKL5
1 1.000 0.160 X 18510844 missense variant G/A snv 0.700 0
dbSNP: rs1555949009
rs1555949009
CDKL5
1 1.000 0.160 X 18575384 missense variant G/A;C snv 0.700 0
dbSNP: rs1555949041
rs1555949041
CDKL5
1 1.000 0.160 X 18575452 frameshift variant A/- del 0.700 0
dbSNP: rs1555949763
rs1555949763
CDKL5
1 1.000 0.160 X 18581940 frameshift variant G/- del 0.700 0
dbSNP: rs1555950066
rs1555950066
CDKL5
1 1.000 0.160 X 18584307 stop gained G/T snv 0.700 0
dbSNP: rs1555950083
rs1555950083
CDKL5
1 1.000 0.160 X 18584354 splice donor variant G/A snv 0.700 0
dbSNP: rs1555950465
rs1555950465
CDKL5
1 1.000 0.160 X 18588011 frameshift variant -/GCGA delins 0.700 0