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: 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: 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: 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
dbSNP: rs1555950468
rs1555950468
CDKL5
1 1.000 0.160 X 18588015 missense variant G/T snv 0.700 0
dbSNP: rs1555950494
rs1555950494
CDKL5
1 1.000 0.160 X 18588123 frameshift variant C/- delins 0.700 0
dbSNP: rs1555951991
rs1555951991
CDKL5
1 1.000 0.160 X 18604170 stop gained G/T snv 0.700 0
dbSNP: rs1555952015
rs1555952015
CDKL5
1 1.000 0.160 X 18604269 stop gained G/T snv 0.700 0
dbSNP: rs1555952052
rs1555952052
CDKL5
1 1.000 0.160 X 18604443 stop gained C/T snv 0.700 0
dbSNP: rs1555952101
rs1555952101
CDKL5
1 1.000 0.160 X 18604606 frameshift variant ACCA/- delins 0.700 0
dbSNP: rs1555954074
rs1555954074
CDKL5
1 1.000 0.160 X 18619935 stop gained C/A snv 0.700 0
dbSNP: rs1555954078
rs1555954078
CDKL5
1 1.000 0.160 X 18619947 frameshift variant AAGAA/- delins 0.700 0