DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Epileptic encephalopathy ×

Variants associated to the Gene: CDKL5 ×

Results per page

Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs267608501	CDKL5	0.882	0.160	X	18587986	missense variant	C/T	snv			3
rs1057518759	CDKL5	1.000	0.040	X	18604394	frameshift variant	-/GC	delins			2
rs786204967	CDKL5	1.000	0.040	X	18604169	frameshift variant	AG/-	delins			2
rs1057519542	CDKL5	1.000	0.040	X	18604372	frameshift variant	-/GACC	delins			1
rs1569219844	CDKL5	1.000	0.040	X	18604845	frameshift variant	AG/-	del			1