DisGeNET - a database of gene-disease associations

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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
rs5215	KCNJ11	0.827	0.160	11	17387083	missense variant	C/T	snv	0.64	0.71	2
rs5219	KCNJ11	0.701	0.360	11	17388025	stop gained	T/A;C	snv	0.64		2
rs2074314	KCNJ11	1.000	0.080	11	17390274	upstream gene variant	C/T	snv		0.72	1