DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Neoplasm Metastasis ×

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
rs121913444	EGFR	0.724	0.160	7	55191831	missense variant	T/A;C;G	snv			3
rs28929495	EGFR	0.807	0.120	7	55174014	missense variant	G/A;C;T	snv			3
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			1
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			1
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			1