DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Squamous cell carcinoma ×

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
rs116150891	CDKN2A	1.000	0.040	9	21970929	missense variant	G/A;C	snv	5.6E-04	2.6E-03	1
rs6413464	CDKN2A	1.000	0.040	9	21970980	missense variant	C/A;G	snv	1.3E-03; 4.1E-06		1