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: rs281865367
rs281865367
RS1 ; CDKL5
1 1.000 X 18642036 missense variant C/G;T snv 0.700 1.000 13 1997 2016
dbSNP: rs281865368
rs281865368
RS1 ; CDKL5
1 1.000 X 18642032 missense variant A/G snv 0.700 1.000 13 1997 2016
dbSNP: rs281865369
rs281865369
RS1 ; CDKL5
1 1.000 X 18642024 missense variant A/C;G snv 5.5E-06 0.700 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: rs61752065
rs61752065
RS1 ; CDKL5
1 1.000 X 18647224 missense variant G/T snv 0.700 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: rs61752069
rs61752069
RS1 ; CDKL5
1 1.000 X 18647209 missense variant A/C snv 0.700 1.000 13 1997 2016
dbSNP: rs61752072
rs61752072
RS1 ; CDKL5
2 0.925 0.040 X 18647194 missense variant A/C snv 0.700 1.000 13 1997 2016
dbSNP: rs61752075
rs61752075
RS1 ; CDKL5
1 1.000 X 18644623 missense variant C/T snv 0.700 1.000 13 1997 2016
dbSNP: rs61752144
rs61752144
RS1 ; CDKL5
3 0.882 0.040 X 18644616 missense variant C/A;G snv 0.700 1.000 13 1997 2016
dbSNP: rs61752145
rs61752145
RS1 ; CDKL5
1 1.000 X 18644615 missense variant G/A snv 0.700 1.000 13 1997 2016
dbSNP: rs61752149
rs61752149
RS1 ; CDKL5
1 1.000 X 18644572 missense variant A/G snv 0.700 1.000 13 1997 2016
dbSNP: rs61752152
rs61752152
RS1 ; CDKL5
1 1.000 X 18644548 missense variant C/A;G snv 5.4E-06 0.700 1.000 13 1997 2016
dbSNP: rs61752153
rs61752153
RS1 ; CDKL5
1 1.000 X 18644545 missense variant A/G snv 0.700 1.000 13 1997 2016
dbSNP: rs61752154
rs61752154
RS1 ; CDKL5
1 1.000 X 18644540 missense variant T/C snv 0.700 1.000 13 1997 2016
dbSNP: rs61752156
rs61752156
RS1 ; CDKL5
1 1.000 X 18644534 missense variant C/T snv 0.700 1.000 13 1997 2016
dbSNP: rs61752157
rs61752157
RS1 ; CDKL5
1 1.000 X 18644533 missense variant C/T snv 0.700 1.000 13 1997 2016
dbSNP: rs61752158
rs61752158
RS1 ; CDKL5
1 1.000 X 18644531 missense variant G/A;C snv 0.700 1.000 13 1997 2016
dbSNP: rs61753161
rs61753161
RS1 ; CDKL5
1 1.000 X 18644524 missense variant T/A snv 0.700 1.000 13 1997 2016
dbSNP: rs61753162
rs61753162
RS1 ; CDKL5
1 1.000 X 18644516 missense variant C/T snv 0.700 1.000 13 1997 2016
dbSNP: rs61753163
rs61753163
RS1 ; CDKL5
1 1.000 X 18644514 missense variant C/G snv 0.700 1.000 13 1997 2016
dbSNP: rs61753165
rs61753165
RS1 ; CDKL5
1 1.000 X 18644488 missense variant T/C snv 0.700 1.000 13 1997 2016
dbSNP: rs61753166
rs61753166
RS1 ; CDKL5
1 1.000 X 18644463 stop gained C/A;T snv 0.700 1.000 13 1997 2016
dbSNP: rs61753169
rs61753169
RS1 ; CDKL5
1 1.000 X 18642146 missense variant C/T snv 0.700 1.000 13 1997 2016
dbSNP: rs61753171
rs61753171
RS1 ; CDKL5
1 1.000 X 18642135 missense variant G/A snv 5.5E-06 0.700 1.000 13 1997 2016