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: rs104894930
rs104894930
RS1 ; CDKL5
3 0.882 0.040 X 18642071 missense variant G/A snv 0.700 0
dbSNP: rs104894928
rs104894928
RS1 ; CDKL5
3 0.882 0.040 X 18647303 missense variant C/G;T snv 1.1E-05 0.010 1.000 1 1998 1998
dbSNP: rs281865352
rs281865352
RS1 ; CDKL5
2 0.925 0.040 X 18642101 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs281865365
rs281865365
RS1 ; CDKL5
3 0.882 0.040 X 18642042 missense variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs61752144
rs61752144
RS1 ; CDKL5
3 0.882 0.040 X 18644616 missense variant C/A;G snv 0.010 1.000 1 2003 2003
dbSNP: rs61752147
rs61752147
RS1 ; CDKL5
1 1.000 0.040 X 18644586 stop gained C/G;T snv 0.010 1.000 1 2003 2003