DisGeNET - a database of gene-disease associations

List of associated variants

SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, C3149075

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
rs74315391	KCNQ2	0.827	0.120	20	63444730	missense variant	G/A	snv			6
rs118192200	KCNQ2	0.882		20	63444729	missense variant	C/T	snv			4