DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Carcinogenesis ×

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
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs146795390	EGFR	0.827	0.080	7	55191776	missense variant	G/A	snv	8.0E-06	7.0E-06	7
rs780439043	EGFR	0.925	0.080	7	55205301	missense variant	A/G	snv	8.0E-06	1.4E-05	3