DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Colorectal Neoplasms ×

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
rs1057519882	CDKN2A	0.807	0.200	9	21974678	missense variant	C/A	snv			7