DisGeNET - a database of gene-disease associations

List of associated variants

Absence Epilepsy, C0014553

Source: CURATED ×

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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
rs121909673	GABRG2	0.776	0.080	5	162093965	missense variant	G/A	snv			3
rs267606697	CACNA1H	0.925	0.040	16	1204325	missense variant	G/A	snv	2.4E-04	4.2E-05	1
rs8044363	CACNA1H	0.925	0.040	16	1200559	synonymous variant	T/A;C	snv	0.37		1
rs71651682	GABRB3 ; LOC112268151	0.925	0.040	15	26772759	missense variant	C/T	snv			1
rs121909674	GABRG2	0.790	0.080	5	162153132	stop gained	C/T	snv			1
rs25409	LOC112268151 ; GABRB3	0.882	0.080	15	26773694	missense variant	G/A	snv	2.9E-03	3.5E-03	1