DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Secondary malignant neoplasm of colon and/or rectum ×

Variants associated to the Gene: EGFR ×

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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
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs2227983	EGFR	0.658	0.520	7	55161562	missense variant	G/A;C;T	snv	0.29		31
rs909797662	EGFR	0.790	0.120	7	55191837	missense variant	G/A	snv			8
rs144460286	EGFR	0.925	0.080	7	55155922	missense variant	A/C	snv	4.0E-06		2