DisGeNET - a database of gene-disease associations

List of associated variants

SEIZURES, BENIGN FAMILIAL INFANTILE, 3, C1843140

Source: ALL

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	Num. diseases
rs387906686	SCN2A	0.742	0.320	2	165310413	missense variant	C/A;T	snv		23
rs869312663	SCN2A	0.882	0.200	2	165381114	missense variant	A/G	snv		5
rs121917748	SCN2A	0.882	0.120	2	165308751	missense variant	C/T	snv	2.0E-05	4
rs387906684	SCN2A	0.851	0.120	2	165367327	stop gained	G/A;T	snv		4
rs1060503101	SCN2A	0.925	0.080	2	165388782	missense variant	C/T	snv		3
rs796053162	SCN2A	0.882	0.080	2	165389123	missense variant	G/A	snv		3
rs1060503102	SCN2A	0.925	0.080	2	165388682	stop gained	C/T	snv		2
rs121917750	SCN2A	0.925	0.080	2	165386881	missense variant	C/G	snv		2
rs121917751	SCN2A	0.925	0.080	2	165344666	missense variant	G/A	snv		2
rs121917752	SCN2A	0.925	0.080	2	165309414	missense variant	G/A	snv		2
rs1553461662	SCN2A	0.925	0.080	2	165377611	frameshift variant	-/T	delins		2
rs1553462227	SCN2A	0.925	0.080	2	165381148	missense variant	T/C	snv		2
rs1553463516	SCN2A	0.925	0.080	2	165388930	frameshift variant	C/-	delins		2
rs1553567409	SCN2A	0.925	0.080	2	165308794	missense variant	C/T	snv		2
rs1553567561	SCN2A	0.925	0.080	2	165309431	missense variant	T/G	snv		2
rs1553568927	SCN2A	0.925	0.080	2	165313919	frameshift variant	-/A	delins		2
rs1553569054	SCN2A	0.925	0.080	2	165314067	stop gained	C/T	snv		2
rs1553569662	SCN2A	0.925	0.080	2	165315616	frameshift variant	AGAA/-	delins		2
rs1553569789	SCN2A	0.925	0.080	2	165315687	stop gained	A/T	snv		2
rs1553579225	SCN2A	0.925	0.080	2	165344558	stop gained	C/T	snv		2
rs1553583659	SCN2A	0.925	0.080	2	165354306	frameshift variant	A/-	delins		2
rs1558886061	SCN2A	0.925	0.080	2	165389037	missense variant	G/A	snv		2
rs1558886146	SCN2A	0.925	0.080	2	165389112	missense variant	A/G	snv		2
rs1558886168	SCN2A	0.925	0.080	2	165389122	frameshift variant	C/-	del		2
rs1559352550	SCN2A	0.925	0.080	2	165309404	missense variant	A/G	snv		2