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
rs587776650	NBN	0.790	0.280	8	89971214	frameshift variant	GTTTT/-	delins		2.0E-04	11
rs876660634	PTEN	0.807	0.200	10	87925551	missense variant	A/C;G	snv			10