DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Brain Neoplasms ×

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
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs149840192	EGFR	0.807	0.080	7	55154129	missense variant	C/A;T	snv			7
rs1057519887	EGFR	0.925	0.040	7	55154128	missense variant	GC/AA;AT	mnv			3
rs1057519888	EGFR	0.925	0.080	7	55143386	missense variant	A/G	snv			3
rs139236063	EGFR	0.925	0.080	7	55165350	missense variant	G/C;T	snv			3
rs769696078	EGFR	0.925	0.040	7	55154128	missense variant	G/A	snv			3
rs1057519828	EGFR			7	55143387	missense variant	G/A	snv			1
rs1057519829	EGFR			7	55154050	missense variant	A/C;G	snv	4.0E-06		1