DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Malignant neoplasm of stomach ×

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
rs2072454	EGFR	0.763	0.160	7	55146655	synonymous variant	C/T	snv	0.51	0.51	9
rs748491031	EGFR	0.827	0.120	7	55200384	stop gained	C/G;T	snv	1.2E-05		8
rs373129709	LOC105375284 ; EGFR	0.827	0.120	7	55019338	missense variant	G/A;T	snv	1.1E-04		7