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
rs1063054	NBN ; OSGIN2	0.807	0.160	8	89934373	3 prime UTR variant	T/G	snv		0.32	6
rs13312986	NBN ; OSGIN2	0.882	0.080	8	89933890	3 prime UTR variant	T/C	snv		3.0E-02	3
rs14448	NBN ; OSGIN2	0.882	0.080	8	89933605	3 prime UTR variant	A/G	snv		0.19	3
rs1663689		0.882	0.080	10	8983232	intergenic variant	T/C	snv		0.25	3
rs2279574	DUSP6	0.827	0.120	12	89351700	missense variant	C/A;T	snv	0.52		8
rs2869967	FAM13A ; LOC105377327	0.827	0.120	4	88948181	intron variant	T/C	snv		0.49	11
rs4673	CYBA	0.653	0.600	16	88646828	missense variant	A/G;T	snv	0.70		32
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		56
rs1205454520	KLLN ; PTEN	0.763	0.120	10	87864059	5 prime UTR variant	-/G	delins		7.2E-06	10
rs2188524	ABCB1	0.882	0.080	7	87601119	intron variant	T/C	snv		3.2E-03	3
rs149518139	ABCB1	0.882	0.080	7	87566852	missense variant	T/C	snv	4.0E-06		3
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs2235013	ABCB1	0.882	0.080	7	87549310	intron variant	C/T	snv	0.46	0.48	3
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs3842	ABCB1	0.882	0.080	7	87504050	3 prime UTR variant	T/C	snv		0.16	5
rs4513061	AGBL1	0.807	0.080	15	86428401	intron variant	G/A;T	snv			6
rs369576054	ARHGAP24 ; MAPK10	0.807	0.120	4	85994925	missense variant	C/T	snv	2.8E-05	4.9E-05	6
rs336958	HAPLN1	0.882	0.080	5	83677577	intron variant	T/C	snv		0.81	3
rs1805377	XRCC4	0.689	0.480	5	83353124	splice acceptor variant	G/A	snv	0.23	0.25	19
rs28360317	XRCC4	0.716	0.280	5	83323739	intron variant	-/CCT	delins		0.24	15
rs3734091	XRCC4	0.689	0.280	5	83204915	missense variant	G/T	snv	2.3E-02	1.4E-02	19
rs10040363	XRCC4	0.882	0.080	5	83177826	intron variant	A/G	snv		0.50	3
rs28360071	XRCC4	0.708	0.240	5	83142293	intron variant	GATGAGGAAACTAACTCTCAGTGGTGTTTA/-	delins		0.48	18
rs9293329	XRCC4	0.882	0.080	5	83100768	intron variant	G/A	snv		7.3E-02	3