DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Hypoglycemia ×

Variants associated to the Gene: KCNJ11 ×

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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
rs5219	KCNJ11	0.701	0.360	11	17388025	stop gained	T/A;C	snv	0.64		25
rs1057518775	KCNJ11	0.851	0.160	11	17387907	missense variant	G/A;C	snv			4