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: rs61750250
rs61750250
CDKL5
1 1.000 0.080 X 18598472 frameshift variant TTGGACCCAG/- delins 0.700 0
dbSNP: rs61753251
rs61753251
CDKL5
2 0.925 0.200 X 18628509 frameshift variant CT/- del 0.700 0
dbSNP: rs62641235
rs62641235
CDKL5
4 0.851 0.200 X 18575423 missense variant T/A;C snv 0.700 0
dbSNP: rs62643608
rs62643608
CDKL5
3 0.882 0.200 X 18575390 frameshift variant T/- delins 0.700 0
dbSNP: rs62643614
rs62643614
CDKL5
2 0.925 0.200 X 18619932 frameshift variant G/- delins 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: rs786204968
rs786204968
CDKL5
1 1.000 0.080 X 18604265 frameshift variant C/- del 0.700 0
dbSNP: rs786204969
rs786204969
CDKL5
1 1.000 0.080 X 18604299 stop gained C/T snv 0.700 0
dbSNP: rs786204970
rs786204970
CDKL5
1 1.000 0.080 X 18604339 frameshift variant -/A delins 0.700 0
dbSNP: rs786204972
rs786204972
CDKL5
1 1.000 0.080 X 18604473 frameshift variant T/- delins 0.700 0
dbSNP: rs786204975
rs786204975
CDKL5
1 1.000 0.080 X 18604778 frameshift variant C/- del 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: rs786204983
rs786204983
CDKL5
2 0.925 0.200 X 18579844 splice acceptor variant TAGAATATGCT/- delins 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
dbSNP: rs786204988
rs786204988
CDKL5
1 1.000 0.080 X 18584308 frameshift variant -/GT delins 0.700 0
dbSNP: rs786204989
rs786204989
CDKL5
1 1.000 0.080 X 18584327 missense variant G/T snv 0.700 0
dbSNP: rs786204990
rs786204990
CDKL5
1 1.000 0.080 X 18588058 frameshift variant -/TTTTA delins 0.700 0
dbSNP: rs786204992
rs786204992
CDKL5
1 1.000 0.080 X 18598575 frameshift variant A/- delins 0.700 0