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: 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
dbSNP: rs1555954737
rs1555954737
CDKL5
1 1.000 0.160 X 18625201 frameshift variant CCAAAGGA/- delins 0.700 0
dbSNP: rs1569213917
rs1569213917
CDKL5
1 1.000 0.160 X 18579959 missense variant G/T snv 0.700 0
dbSNP: rs1569218019
rs1569218019
CDKL5
1 1.000 0.160 X 18598504 stop gained C/T snv 0.700 0
dbSNP: rs1569219331
rs1569219331
CDKL5
1 1.000 0.160 X 18604070 frameshift variant ACCTA/- delins 0.700 0
dbSNP: rs1569220925
rs1569220925
CDKL5
1 1.000 0.160 X 18609560 frameshift variant C/- del 0.700 0
dbSNP: rs17857094
rs17857094
CDKL5
1 1.000 0.160 X 18625245 stop gained C/T snv 0.700 0
dbSNP: rs267608415
rs267608415
CDKL5
1 1.000 0.160 X 18507133 frameshift variant T/- delins 0.700 0
dbSNP: rs267608418
rs267608418
CDKL5
1 1.000 0.160 X 18507154 missense variant G/C snv 0.700 0
dbSNP: rs267608419
rs267608419
CDKL5
1 1.000 0.160 X 18507162 splice donor variant T/- del 0.700 0
dbSNP: rs267608420
rs267608420
CDKL5
1 1.000 0.160 X 18510818 splice region variant -/G delins 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: rs267608441
rs267608441
CDKL5
1 1.000 0.160 X 18575433 frameshift variant GAAG/- delins 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: rs267608497
rs267608497
CDKL5
1 1.000 0.160 X 18584347 frameshift variant -/A delins 0.700 0
dbSNP: rs267608500
rs267608500
CDKL5
1 1.000 0.160 X 18587977 missense variant A/G snv 0.700 0
dbSNP: rs267608515
rs267608515
CDKL5
1 1.000 0.160 X 18588079 missense variant T/G snv 0.700 0
dbSNP: rs267608528
rs267608528
CDKL5
1 1.000 0.160 X 18595403 frameshift variant TA/- delins 0.700 0