Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267608501
rs267608501
CDKL5
0.882 0.160 X 18587986 missense variant C/T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 1.000 18 2003 2017
dbSNP: rs267608501
rs267608501
CDKL5
0.882 0.160 X 18587986 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs267608501
rs267608501
CDKL5
0.882 0.160 X 18587986 missense variant C/T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.700 0