DisGeNET - a database of gene-disease associations

List of associated variants

FEBRILE CONVULSIONS, FAMILIAL, 8, C1969810

Source: ALL

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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
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs121909673	GABRG2	0.776	0.080	5	162093965	missense variant	G/A	snv			10
rs121909674	GABRG2	0.790	0.080	5	162153132	stop gained	C/T	snv			8
rs267606837	GABRG2	0.851	0.080	5	162097839	missense variant	C/G	snv			4
rs121909672	GABRG2	0.882	0.080	5	162149168	missense variant	A/T	snv			3
rs1057520498	GABRG2	0.925	0.080	5	162095504	missense variant	C/T	snv	4.0E-06		2
rs1060501888	GABRG2	0.925	0.080	5	162149246	missense variant	G/T	snv			2
rs1060501889	GABRG2	0.925	0.080	5	162149210	frameshift variant	G/-	del			2
rs1469287853	GABRG2	0.925	0.080	5	162142211	stop gained	G/C;T	snv		7.0E-06	2
rs1554098222	GABRG2	0.925	0.080	5	162103931	frameshift variant	CTGTT/-	delins			2
rs1554101185	GABRG2	0.925	0.080	5	162153091	splice acceptor variant	A/G	snv			2
rs878854144	GABRG2	0.925	0.080	5	162097840	frameshift variant	G/-	del			2
rs1561645243	GABRG2	1.000	0.080	5	162104028	splice donor variant	T/G	snv			1