DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Squamous cell carcinoma of esophagus ×

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
rs2227983	EGFR	0.658	0.520	7	55161562	missense variant	G/A;C;T	snv	0.29		31
rs121913444	EGFR	0.724	0.160	7	55191831	missense variant	T/A;C;G	snv			18
rs2072454	EGFR	0.763	0.160	7	55146655	synonymous variant	C/T	snv	0.51	0.51	9
rs751295137	EGFR	0.851	0.160	7	55152582	missense variant	G/A	snv	8.0E-06	7.0E-06	6
rs760101437	EGFR	0.851	0.160	7	55154018	missense variant	G/A	snv	3.2E-05	1.4E-05	6
rs121913446	EGFR	0.925	0.120	7	55174735	missense variant	C/T	snv			2