DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Malignant tumor of colon ×

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
rs28929495	EGFR	0.807	0.120	7	55174014	missense variant	G/A;C;T	snv			9
rs909797662	EGFR	0.790	0.120	7	55191837	missense variant	G/A	snv			8
rs1051753269	EGFR	0.790	0.120	7	55174029	missense variant	G/A	snv		7.0E-06	7
rs147740818	EGFR	0.925	0.200	7	55142324	missense variant	A/G	snv			2
rs754527029	LOC105375284 ; EGFR	0.925	0.080	7	55019329	missense variant	C/T	snv			2