DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Benign Rolandic Epilepsy ×

Variants associated to the Gene: KCNQ2 ×

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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
rs118192212	KCNQ2	0.925	0.040	20	63439610	inframe deletion	AAG/-	delins			6
rs201868078	KCNQ2	0.925	0.040	20	63408524	missense variant	G/A;C	snv	1.6E-05		1