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: rs61752068
rs61752068
RS1 ; CDKL5
2 0.925 0.040 X 18647212 missense variant C/T snv 5.5E-06 9.6E-06 0.800 1.000 25 1997 2016
dbSNP: rs61753174
rs61753174
RS1 ; CDKL5
2 0.925 0.040 X 18642105 missense variant G/A;T snv 0.800 1.000 24 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: rs104894930
rs104894930
RS1 ; CDKL5
3 0.882 0.040 X 18642071 missense variant G/A snv 0.800 1.000 20 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: rs61752060
rs61752060
RS1 ; CDKL5
1 1.000 X 18647251 missense variant T/C snv 0.800 1.000 20 1997 2016
dbSNP: rs61752159
rs61752159
RS1 ; CDKL5
2 0.925 0.040 X 18644530 missense variant C/T snv 0.800 1.000 20 1997 2016
dbSNP: rs62645894
rs62645894
RS1 ; CDKL5
1 1.000 X 18647309 missense variant C/G;T snv 0.800 1.000 19 1997 2016
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: 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: rs61752063
rs61752063
RS1 ; CDKL5
1 1.000 X 18647231 missense variant A/G snv 0.800 1.000 13 1997 2016
dbSNP: rs61752067
rs61752067
RS1 ; CDKL5
3 0.925 0.040 X 18647213 missense variant G/A snv 5.5E-06 0.800 1.000 13 1997 2016
dbSNP: rs281865345
rs281865345
RS1 ; CDKL5
1 1.000 X 18647191 missense variant C/T snv 0.700 1.000 13 1997 2016
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: 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: rs281865362
rs281865362
RS1 ; CDKL5
3 0.882 0.040 X 18642053 missense variant C/T snv 0.700 1.000 13 1997 2016