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: rs1569218019
rs1569218019
CDKL5
1 1.000 0.160 X 18598504 stop gained C/T snv 0.700 0
dbSNP: rs17857094
rs17857094
CDKL5
1 1.000 0.160 X 18625245 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: rs267608418
rs267608418
CDKL5
1 1.000 0.160 X 18507154 missense variant G/C 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: rs267608423
rs267608423
CDKL5
1 1.000 0.160 X 18564475 splice acceptor variant A/G snv 0.700 0
dbSNP: rs267608429
rs267608429
CDKL5
1 1.000 0.160 X 18564502 missense variant A/G snv 0.700 0
dbSNP: rs267608435
rs267608435
CDKL5
1 1.000 0.160 X 18575399 missense variant T/C snv 0.700 0
dbSNP: rs267608437
rs267608437
CDKL5
2 0.925 0.200 X 18575407 missense variant C/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: rs267608474
rs267608474
CDKL5
1 1.000 0.160 X 18581890 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs267608477
rs267608477
CDKL5
1 1.000 0.160 X 18581912 stop gained T/A snv 0.700 0
dbSNP: rs267608480
rs267608480
CDKL5
1 1.000 0.160 X 18584261 splice acceptor variant A/G snv 0.700 0
dbSNP: rs267608490
rs267608490
CDKL5
1 1.000 0.160 X 18584312 stop gained C/A;T snv 1.6E-05 0.700 0
dbSNP: rs267608493
rs267608493
CDKL5
5 0.827 0.200 X 18584331 missense variant C/A;T snv 0.700 0
dbSNP: rs267608500
rs267608500
CDKL5
1 1.000 0.160 X 18587977 missense variant A/G snv 0.700 0
dbSNP: rs267608501
rs267608501
CDKL5
3 0.882 0.160 X 18587986 missense variant C/T snv 0.700 0
dbSNP: rs267608515
rs267608515
CDKL5
1 1.000 0.160 X 18588079 missense variant T/G snv 0.700 0
dbSNP: rs267608532
rs267608532
CDKL5
1 1.000 0.160 X 18598491 missense variant A/C snv 0.700 0
dbSNP: rs267608553
rs267608553
CDKL5
1 1.000 0.160 X 18603900 splice acceptor variant A/G snv 0.700 0
dbSNP: rs267608561
rs267608561
CDKL5
1 1.000 0.160 X 18603963 stop gained 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: rs267608647
rs267608647
CDKL5
1 1.000 0.160 X 18608820 stop gained C/T snv 0.700 0