DisGeNET - a database of gene-disease associations

List of associated variants

Developmental stagnation at onset of seizures, C1836829

Source: CLINVAR ×

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
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37
rs1555955296	CDKL5	0.742	0.320	X	18628716	stop gained	C/T	snv			17