DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Malignant 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
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs121913444	EGFR	0.724	0.160	7	55191831	missense variant	T/A;C;G	snv			17
rs1057519861	EGFR ; EGFR-AS1	0.776	0.080	7	55181398	missense variant	T/A	snv			15
rs748491031	EGFR	0.827	0.120	7	55200384	stop gained	C/G;T	snv	1.2E-05		8
rs1050171	EGFR ; EGFR-AS1	0.851	0.120	7	55181370	missense variant	G/A;C	snv	0.52; 4.0E-06		6
rs140516819	EGFR			7	55172999	missense variant	A/C;G	snv	4.0E-05	2.4E-04	4
rs35918369	EGFR			7	55205613	missense variant	C/T	snv	3.1E-04	3.3E-04	4
rs139429793	EGFR	0.925	0.120	7	55155928	missense variant	G/A	snv	1.6E-05	1.4E-05	3
rs556324078	EGFR			7	55205514	missense variant	T/C	snv	4.0E-06		3
rs767505234	EGFR	1.000	0.040	7	55174033	missense variant	C/T	snv		1.4E-05	3
rs961150162	EGFR			7	55198779	missense variant	G/A;C	snv			3
rs13222385	EGFR-AS1 ; EGFR	1.000	0.160	7	55183900	intron variant	A/G	snv		0.28	3
rs746763556	EGFR			7	55160230	missense variant	T/A;G	snv	1.6E-05; 4.0E-06		2
rs987532315	EGFR			7	55201782	splice region variant	G/A	snv	4.0E-06		2