DisGeNET - a database of gene-disease associations

List of associated variants

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43, C4310712

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
rs1057519549	GABRB3	0.925	0.040	15	26567655	missense variant	G/A	snv			2
rs1057519550	GABRB3	0.925	0.040	15	26621403	missense variant	T/G	snv			2
rs1064796514	GABRB3	1.000		15	26567658	missense variant	G/A;T	snv			1
rs886037938	GABRB3	1.000		15	26621417	missense variant	C/T	snv			1
rs886037939	GABRB3	1.000		15	26580456	missense variant	T/A	snv			1
rs886037940	GABRB3	1.000		15	26567671	missense variant	G/T	snv			1
rs886037941	GABRB3	1.000		15	26561099	missense variant	C/T	snv			1
rs1064794797	LOC112268151 ; GABRB3	1.000		15	26772403	missense variant	A/C;G	snv			1