DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Colorectal Carcinoma ×

Variants associated to the Gene: CHEK2 ×

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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
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		15
rs540635787	CHEK2	0.851	0.200	22	28694073	missense variant	G/A;C;T	snv	1.7E-05		4