CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs122460159
rs122460159
0.807 0.200 X 18564496 missense variant C/T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy
Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs267608665
rs267608665
1.000 0.040 X 18650520 stop gained C/A;T snv 5.5E-06; 1.1E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy
Nervous System Diseases 0.010 1.000 1 2010 2010