Gene: CDKL5 ×
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: rs122460159
rs122460159
CDKL5
6 0.807 0.200 X 18564496 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs267608665
rs267608665
RS1 ; CDKL5
1 1.000 0.040 X 18650520 stop gained C/A;T snv 5.5E-06; 1.1E-05 0.010 1.000 1 2010 2010