DisGeNET - a database of gene-disease associations

List of associated variants

Metastatic Lung Adenocarcinoma, C4744444

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
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
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
rs730882008	TP53	0.683	0.440	17	7673775	missense variant	C/A;G;T	snv	4.0E-06		23
rs372043866	ERBB2	0.732	0.240	17	39727965	missense variant	G/A;C;T	snv	3.2E-05; 2.4E-05; 1.2E-05		18
rs1057519816	ERBB2	0.763	0.200	17	39711955	missense variant	C/A;T	snv			14
rs1057519720	BRAF	0.851	0.080	7	140781602	missense variant	CC/AA;GA	mnv			4
rs1131692238	CDK12	0.925	0.040	17	39509731	missense variant	G/T	snv			2