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
rs763348672	ENPEP	1.000	0.080	4	110549757	missense variant	T/C	snv	4.0E-06		1
rs17152930	XKR6	1.000	0.080	8	11153316	intron variant	G/A	snv		4.9E-02	1
rs754845817	ALDH2	1.000	0.080	12	111790494	missense variant	G/A	snv	1.6E-05	1.4E-05	1
rs5744256	IL18	0.827	0.120	11	112152125	intron variant	A/G	snv		0.16	6
rs1834481	IL18	0.882	0.160	11	112153104	non coding transcript exon variant	C/G	snv		0.16	5
rs5744224	IL18 ; LOC107987164	1.000	0.080	11	112164936	intron variant	A/T	snv		3.7E-03	1
rs763375936	ATG3	0.827	0.160	3	112532749	missense variant	C/T	snv	8.3E-06	7.0E-06	5
rs772776695	ATG3	0.827	0.160	3	112548576	missense variant	T/A	snv	4.0E-06		5
rs12265047	VTI1A	1.000	0.080	10	112728166	intron variant	G/A;C	snv			1
rs7086803	VTI1A	0.763	0.160	10	112738717	intron variant	G/A	snv		0.20	9
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs1143627	IL1B	0.605	0.760	2	112836810	5 prime UTR variant	G/A	snv		0.56	47
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs1143623	IL1B	0.677	0.440	2	112838252	upstream gene variant	C/G	snv		0.24	29
rs12621220		1.000	0.080	2	112840678	non coding transcript exon variant	C/T	snv		0.24	2
rs1049434	SLC16A1	0.925	0.120	1	112913924	missense variant	A/T	snv	0.59	0.66	2
rs1732786	DTX1	1.000	0.080	12	113057841	5 prime UTR variant	G/A	snv		0.65	1
rs10981694	LOC107987119 ; SLC31A1	1.000	0.080	9	113224129	intron variant	T/G	snv		8.7E-02	1
rs7851395	SLC31A1 ; LOC107987119	1.000	0.080	9	113240184	intron variant	A/G	snv		0.47	1
rs12686377	LOC107987119 ; SLC31A1	1.000	0.080	9	113241753	intron variant	C/A;T	snv			1
rs751688663	ATG7	0.807	0.280	3	11340656	missense variant	G/A	snv	4.0E-06		7
rs10023113	CAMK2D	1.000	0.080	4	113625548	intron variant	A/G	snv		0.18	1
rs12415607	CASP7	0.827	0.160	10	113678445	upstream gene variant	C/A	snv		0.22	7
rs2227310	CASP7	0.807	0.160	10	113729393	missense variant	C/G	snv	0.26	0.23	9
rs4353229	CASP7	0.807	0.160	10	113729830	3 prime UTR variant	T/C	snv		0.23	6