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: 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
dbSNP: rs1555954737
rs1555954737
CDKL5
1 1.000 0.160 X 18625201 frameshift variant CCAAAGGA/- delins 0.700 0
dbSNP: rs1555955296
rs1555955296
CDKL5
17 0.742 0.320 X 18628716 stop gained C/T snv 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: 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: 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: 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: rs267608433
rs267608433
CDKL5
2 0.925 0.200 X 18575368 frameshift variant GAAA/- delins 0.700 0