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: rs104894928
rs104894928
RS1 ; CDKL5
3 0.882 0.040 X 18647303 missense variant C/G;T snv 1.1E-05 0.800 1.000 13 1997 2016
dbSNP: rs104894929
rs104894929
RS1 ; CDKL5
1 1.000 X 18642012 missense variant A/G snv 0.800 1.000 13 1997 2016
dbSNP: rs104894930
rs104894930
RS1 ; CDKL5
3 0.882 0.040 X 18642071 missense variant G/A snv 0.800 1.000 20 1997 2016
dbSNP: rs104894932
rs104894932
RS1 ; CDKL5
1 1.000 X 18647301 missense variant C/G;T snv 5.5E-06 0.800 1.000 13 1997 2016
dbSNP: rs104894933
rs104894933
RS1 ; CDKL5
2 0.925 0.040 X 18647296 missense variant C/A snv 9.5E-06 0.800 1.000 13 1997 2016
dbSNP: rs104894934
rs104894934
RS1 ; CDKL5
2 0.925 0.040 X 18647192 missense variant C/A;G snv 1.6E-05 0.800 1.000 13 1997 2016
dbSNP: rs104894935
rs104894935
RS1
1 1.000 X 18672031 missense variant A/G snv 0.800 1.000 13 1997 2016
dbSNP: rs1057516744
rs1057516744
RS1 ; CDKL5
1 1.000 X 18644454 stop gained G/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1057517433
rs1057517433
RS1 ; CDKL5
1 1.000 X 18642006 stop lost A/G snv 0.700 0
dbSNP: rs1800001
rs1800001
RS1 ; CDKL5
1 1.000 X 18644526 missense variant A/C;G snv 0.700 0
dbSNP: rs281865345
rs281865345
RS1 ; CDKL5
1 1.000 X 18647191 missense variant C/T snv 0.700 1.000 13 1997 2016
dbSNP: rs281865348
rs281865348
RS1 ; CDKL5
1 1.000 X 18644429 splice donor variant C/A;T snv 0.700 1.000 2 2003 2015
dbSNP: rs281865351
rs281865351
RS1 ; CDKL5
1 1.000 X 18642102 missense variant G/A snv 0.700 1.000 13 1997 2016
dbSNP: rs281865352
rs281865352
RS1 ; CDKL5
2 0.925 0.040 X 18642101 missense variant G/A snv 0.700 1.000 13 1997 2016
dbSNP: rs281865354
rs281865354
RS1 ; CDKL5
2 0.925 0.040 X 18642090 missense variant G/A snv 0.700 1.000 13 1997 2016
dbSNP: rs281865355
rs281865355
RS1 ; CDKL5
1 1.000 X 18642089 missense variant C/G;T snv 5.5E-06 0.800 1.000 20 1997 2017
dbSNP: rs281865356
rs281865356
RS1 ; CDKL5
1 1.000 X 18642083 missense variant A/G snv 0.700 1.000 13 1997 2016
dbSNP: rs281865357
rs281865357
RS1 ; CDKL5
1 1.000 X 18642081 missense variant G/A snv 0.700 1.000 13 1997 2016
dbSNP: rs281865358
rs281865358
RS1 ; CDKL5
1 1.000 X 18642080 missense variant C/T snv 0.700 1.000 13 1997 2016
dbSNP: rs281865360
rs281865360
RS1 ; CDKL5
2 0.925 0.040 X 18642058 missense variant G/A;C;T snv 5.5E-06 0.700 1.000 13 1997 2016
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
1 1.000 X 18642054 missense variant G/A;C snv 0.800 1.000 21 1997 2017
dbSNP: rs281865362
rs281865362
RS1 ; CDKL5
3 0.882 0.040 X 18642053 missense variant C/T snv 0.700 1.000 13 1997 2016
dbSNP: rs281865364
rs281865364
RS1 ; CDKL5
2 0.925 0.040 X 18642041 missense variant C/T snv 0.700 1.000 13 1997 2016
dbSNP: rs281865365
rs281865365
RS1 ; CDKL5
3 0.882 0.040 X 18642042 missense variant G/A;T snv 0.700 1.000 13 1997 2016
dbSNP: rs281865367
rs281865367
RS1 ; CDKL5
1 1.000 X 18642036 missense variant C/G;T snv 0.700 1.000 13 1997 2016