DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Epileptic encephalopathy ×

Variants associated to the Gene: GABRB3 ×

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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