DisGeNET - a database of gene-disease associations

List of associated variants

Advanced lung cancer, C4524268

Source: ALL

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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
rs2227983	EGFR	0.658	0.520	7	55161562	missense variant	G/A;C;T	snv	0.29		31
rs7694379		1.000		4	87265357	intron variant	G/A	snv		0.40	3
rs1302295057	EGFR	0.925	0.040	7	55201284	missense variant	G/A	snv	4.0E-06	7.0E-06	2
rs1395763398	MET	0.925	0.040	7	116795891	missense variant	G/A	snv	4.0E-06		2
rs1194653703	PTK2	0.925	0.040	8	140659663	missense variant	T/C	snv		7.0E-06	2
rs762515280	PTK2	0.925	0.040	8	140659497	missense variant	A/C;G	snv	1.2E-05; 4.0E-06		2