DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Breast 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
rs3731249	CDKN2A	0.683	0.320	9	21970917	missense variant	C/A;G;T	snv	2.1E-02		23
rs3731239	CDKN2A	0.763	0.240	9	21974219	intron variant	A/G	snv		0.26	10
rs1453633223	CDKN2A	0.807	0.080	9	21974503	missense variant	C/T	snv	4.0E-06		6
rs200863613	CDKN2A	0.925	0.080	9	21971061	missense variant	C/A;T	snv	8.5E-05	3.7E-04	6
rs878853646	CDKN2A	0.882	0.080	9	21971106	missense variant	C/A;T	snv	4.3E-06; 8.6E-06		3