DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Cervix carcinoma ×

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
rs712829	LOC105375284 ; EGFR	0.776	0.120	7	55019062	5 prime UTR variant	G/C;T	snv			8
rs11543848	EGFR	0.790	0.240	7	55161562	missense variant	G/A;C;T	snv			7