DisGeNET - a database of gene-disease associations

Source: BEFREE

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
rs150423237	EGFR			7	55173087	missense variant	G/A	snv	2.1E-04	2.4E-04	1
rs1372330611	EGFR	1.000	0.080	7	55152564	missense variant	C/G	snv	4.0E-06		1
rs17337023	EGFR	1.000	0.120	7	55171181	synonymous variant	T/A;G	snv			1
rs1427028322	EGFR	1.000	0.080	7	55163740	missense variant	A/G	snv			1
rs759165	EGFR	1.000	0.080	7	55049014	intron variant	G/A	snv		4.3E-02	1
rs9642391	EGFR	1.000	0.080	7	55177671	intron variant	G/C	snv		0.24	1
rs397517128	EGFR	1.000	0.080	7	55191753	missense variant	A/T	snv			1
rs376822837	EGFR	1.000	0.080	7	55198761	missense variant	G/A	snv	3.6E-05	6.3E-05	1
rs6958497	EGFR	1.000	0.080	7	55094053	intron variant	T/C	snv		0.14	1
rs1383485737	EGFR	1.000	0.080	7	55200363	missense variant	A/G	snv	4.0E-06		1
rs397517134	EGFR	1.000	0.080	7	55191861	missense variant	C/G	snv			1
rs11977660	EGFR	1.000	0.040	7	55094643	intron variant	T/C	snv		0.42	1
rs768735314	EGFR	1.000	0.120	7	55163772	synonymous variant	G/A	snv	8.0E-06		1
rs755356995	EGFR	1.000	0.040	7	55173039	missense variant	T/C	snv	4.0E-06; 4.0E-06		1
rs12718945	EGFR	1.000	0.040	7	55125270	intron variant	T/G	snv		0.51	1
rs845552	EGFR	1.000	0.040	7	55177814	intron variant	A/G	snv		0.43	1
rs3752651	EGFR	1.000	0.040	7	55161850	intron variant	T/C	snv		0.15	1
rs121913438	EGFR	1.000	0.040	7	55174777	inframe deletion	TAAGAGAAGCAACATCTC/-	del			1
rs765091640	EGFR			7	55160165	missense variant	G/A	snv	1.2E-05		1
rs377567759	EGFR			7	55160191	missense variant	C/T	snv	4.0E-06	7.0E-06	1
rs150036236	EGFR	0.925	0.080	7	55191741	missense variant	G/A	snv	4.8E-05	3.5E-05	1
rs866211550	EGFR			7	55160247	missense variant	G/T	snv			1
rs774905136	EGFR			7	55156555	synonymous variant	T/C	snv	5.6E-05	1.4E-05	1
rs777342222	EGFR	1.000	0.080	7	55155925	missense variant	T/C	snv	4.0E-06		1
rs587777940	EGFR			7	55202667	missense variant	T/G	snv		7.0E-06	1