DisGeNET - a database of gene-disease associations

List of associated variants

Primary malignant neoplasm of lung, C1306460

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
rs2562796	HIBCH	0.882	0.080	2	190248283	intron variant	T/G	snv		0.30	3
rs3212980	ERCC1	0.882	0.080	19	45413183	intron variant	T/G	snv		0.26	3
rs4246444	FASN	0.882	0.080	17	82081076	intron variant	T/G	snv		0.75	3
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs886039484	TP53	0.641	0.440	17	7674888	missense variant	T/C;G	snv			32
rs1800440	CYP1B1	0.653	0.440	2	38070996	missense variant	T/C;G	snv	0.15; 4.0E-06		29
rs1760944	OSGEP ; APEX1	0.672	0.480	14	20454990	non coding transcript exon variant	T/C;G	snv			26
rs6721961	NFE2L2	0.672	0.520	2	177265309	intron variant	T/C;G	snv		0.89	24
rs1800975	XPA	0.701	0.360	9	97697296	5 prime UTR variant	T/C;G	snv	0.63; 4.5E-06; 4.5E-06		19
rs1202989817	SOD1 ; LOC102724449	0.716	0.360	21	31659813	missense variant	T/C;G	snv	8.0E-06	7.0E-06	18
rs652438	MMP12	0.716	0.400	11	102865911	missense variant	T/C;G	snv	7.1E-02; 2.5E-04		14
rs770460061	GSTP1	0.742	0.240	11	67585239	missense variant	T/C;G	snv	4.0E-06; 1.2E-05		14
rs2227284	IL4	0.732	0.480	5	132677033	intron variant	T/C;G	snv			12
rs7025417	LOC107987046 ; IL33	0.752	0.280	9	6240084	intron variant	T/C;G	snv			11
rs376040996	XPA	0.790	0.120	9	97687210	missense variant	T/C;G	snv	1.2E-05; 2.0E-05		7
rs884225	EGFR	0.827	0.160	7	55206391	3 prime UTR variant	T/C;G	snv			5
rs11072768	CHRNB4	0.882	0.080	15	78637136	intron variant	T/C;G	snv			4
rs200100285	MTHFR	0.851	0.080	1	11796313	missense variant	T/C;G	snv	1.9E-04		4
rs505974		0.882	0.080	3	190188984	intergenic variant	T/C;G	snv			4
rs6950683	EZH2	0.851	0.120	7	148884496	upstream gene variant	T/C;G	snv			4
rs9535826	ATP7B	0.851	0.080	13	51991990	intron variant	T/C;G	snv			4
rs1560642		0.882	0.080	5	148888172	intergenic variant	T/C;G	snv			3
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113