DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Adenocarcinoma of lung (disorder) ×

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
rs1057519883	CDKN2A	0.742	0.280	9	21971120	missense variant	C/G;T	snv			11
rs34968276	CDKN2A	0.776	0.240	9	21971110	stop gained	G/A;C;T	snv			9
rs1057519881	CDKN2A	0.776	0.240	9	21971111	missense variant	T/C	snv			8
rs121913385	CDKN2A	0.763	0.240	9	21971112	missense variant	G/A;C	snv			8