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: rs267608433
rs267608433
CDKL5
2 0.925 0.200 X 18575368 frameshift variant GAAA/- delins 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: rs267608623
rs267608623
CDKL5
1 1.000 0.080 X 18604234 frameshift variant -/C delins 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: rs267608646
rs267608646
CDKL5
1 1.000 0.080 X 18604814 frameshift variant -/TA delins 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: rs61748396
rs61748396
MECP2
4 0.882 0.080 X 154031405 stop gained G/C;T snv 0.700 0
dbSNP: rs61749700
rs61749700
CDKL5
3 0.882 0.200 X 18584324 missense variant A/T snv 0.700 0
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