DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Malignant neoplasm of lung ×

Variants associated to the Gene: CDKN2A ×

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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
rs121913387	CDKN2A	0.827	0.160	9	21971187	stop gained	G/A;C	snv	4.6E-06		2
rs3731239	CDKN2A	0.763	0.240	9	21974219	intron variant	A/G	snv		0.26	1
rs3731249	CDKN2A	0.683	0.320	9	21970917	missense variant	C/A;G;T	snv	2.1E-02		1