DisGeNET - a database of gene-disease associations

List of associated variants

Non-Small Cell Lung Carcinoma, C0007131

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
rs969088		1.000	0.080	5	26389153	intron variant	G/C	snv		9.9E-02	1
rs9909179		1.000	0.080	17	13140986	regulatory region variant	T/C	snv		0.37	1
rs750443908	A1CF	1.000	0.080	10	50859904	missense variant	C/A;T	snv	6.0E-05; 8.0E-06		1
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs979090956	ABCB1	0.827	0.200	7	87553822	missense variant	G/C	snv			5
rs201661522	ABCB1	1.000	0.080	7	87539293	missense variant	A/G	snv	6.4E-05	1.0E-04	2
rs3740066	ABCC2	0.724	0.440	10	99844450	missense variant	C/G;T	snv	2.4E-05; 0.34		20
rs717620	ABCC2	0.763	0.240	10	99782821	5 prime UTR variant	C/T	snv	0.17	0.15	10
rs8187710	ABCC2	0.827	0.200	10	99851537	missense variant	G/A	snv	5.3E-02	8.5E-02	6
rs16950650	ABCC4	1.000	0.080	13	95123178	intron variant	C/T	snv		4.7E-02	2
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		56
rs2231137	ABCG2	0.752	0.400	4	88139962	missense variant	C/T	snv	0.11	7.4E-02	13
rs3114020	ABCG2	0.882	0.200	4	88162514	intron variant	T/C	snv		0.40	5
rs2725264	ABCG2	1.000	0.080	4	88104957	intron variant	C/T	snv		0.70	1
rs4148149	ABCG2	1.000	0.080	4	88141133	intron variant	T/G	snv		0.42	1
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs1225118391	AGT	0.925	0.200	1	230710637	missense variant	T/C	snv	4.0E-06		2
rs768122549	AHCY ; ASIP	1.000	0.080	20	34260386	synonymous variant	C/G;T	snv	4.0E-06		1
rs4957014	AHRR ; PDCD6	0.752	0.160	5	287899	intron variant	T/G	snv		0.74	11
rs12529	AKR1C3	0.776	0.280	10	5094459	missense variant	C/G	snv	0.50	0.45	10
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs1130214	AKT1	0.742	0.280	14	104793397	5 prime UTR variant	C/A	snv		0.31	12
rs201227909	AKT1	0.925	0.160	14	104770839	synonymous variant	T/C	snv			2