Gene: CDKL5 ×
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: 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: rs122460159
rs122460159
CDKL5
6 0.807 0.200 X 18564496 missense variant C/T snv 0.700 0
dbSNP: rs267608395
rs267608395
CDKL5
2 0.925 0.200 X 18604599 stop gained C/T snv 0.700 0
dbSNP: rs267608430
rs267608430
CDKL5
1 1.000 0.080 X 18564524 splice donor variant T/C snv 2.0E-04 0.700 0
dbSNP: rs267608453
rs267608453
CDKL5
1 1.000 0.080 X 18579917 stop gained C/T snv 0.700 0
dbSNP: rs267608468
rs267608468
CDKL5
2 0.925 0.080 X 18579945 missense variant A/G snv 0.700 0
dbSNP: rs267608479
rs267608479
CDKL5
1 1.000 0.080 X 18581951 splice donor variant G/A snv 0.700 0
dbSNP: rs267608493
rs267608493
CDKL5
5 0.827 0.200 X 18584331 missense variant C/A;T snv 0.700 0
dbSNP: rs267608505
rs267608505
CDKL5
1 1.000 0.080 X 18588006 stop gained G/T snv 0.700 0
dbSNP: rs267608643
rs267608643
CDKL5
2 0.925 0.200 X 18604572 stop gained C/T snv 0.700 0
dbSNP: rs267608644
rs267608644
CDKL5
1 1.000 0.080 X 18604632 stop gained G/T snv 0.700 0
dbSNP: rs267608650
rs267608650
CDKL5
1 1.000 0.080 X 18609464 splice acceptor variant G/A snv 0.700 0
dbSNP: rs267608657
rs267608657
CDKL5
1 1.000 0.080 X 18619971 splice region variant G/A snv 0.700 0
dbSNP: rs587783072
rs587783072
CDKL5
1 1.000 0.080 X 18575419 missense variant A/G snv 0.700 0
dbSNP: rs61749700
rs61749700
CDKL5
3 0.882 0.200 X 18584324 missense variant A/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: rs62653623
rs62653623
CDKL5
5 0.851 0.240 X 18575383 stop gained C/T snv 0.700 0
dbSNP: rs786204963
rs786204963
CDKL5
3 0.925 0.080 X 18588055 missense variant A/C snv 0.700 0
dbSNP: rs786204966
rs786204966
CDKL5
1 1.000 0.080 X 18604014 stop gained G/T snv 0.700 0
dbSNP: rs786204969
rs786204969
CDKL5
1 1.000 0.080 X 18604299 stop gained C/T snv 0.700 0
dbSNP: rs786204976
rs786204976
CDKL5
2 0.925 0.200 X 18608913 splice donor variant G/A snv 0.700 0
dbSNP: rs786204981
rs786204981
CDKL5
1 1.000 0.080 X 18628578 stop gained C/A;T snv 0.700 0
dbSNP: rs786204984
rs786204984
CDKL5
1 1.000 0.080 X 18579969 splice donor variant G/A snv 0.700 0
dbSNP: rs786204986
rs786204986
CDKL5
1 1.000 0.080 X 18584262 splice acceptor variant G/A snv 0.700 0