DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Glioma ×

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
rs11506105	EGFR	0.851	0.160	7	55152484	intron variant	A/G	snv		0.59	4
rs17172432	EGFR	0.882	0.080	7	55073624	intron variant	T/C	snv		0.31	3
rs11979158	EGFR	0.882	0.040	7	55091656	intron variant	A/G;T	snv		0.20	2
rs1468727	EGFR	0.925	0.120	7	55162412	intron variant	C/T	snv		0.21	2
rs4947492	EGFR	0.925	0.040	7	55120299	intron variant	G/A	snv		0.50	2
rs730437	EGFR	0.925	0.120	7	55147325	intron variant	A/C	snv		0.51	2
rs12718945	EGFR	1.000	0.040	7	55125270	intron variant	T/G	snv		0.51	1
rs3752651	EGFR	1.000	0.040	7	55161850	intron variant	T/C	snv		0.15	1
rs845552	EGFR	1.000	0.040	7	55177814	intron variant	A/G	snv		0.43	1