DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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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
rs137852735	WNK1	0.882	0.160	12	868745	frameshift variant	-/A	delins			3
rs111033591	WNK1	0.925	0.160	12	868697	stop gained	C/T	snv	1.6E-05	2.1E-05	2