DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma of lung, C0684249

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
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs1878022	CMKLR1	0.851	0.080	12	108305255	intron variant	C/T	snv		0.70	4
rs34330	CDKN1B ; GPR19	0.724	0.280	12	12717761	5 prime UTR variant	T/C	snv		0.70	15
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs3734254	PPARD	0.752	0.240	6	35427233	3 prime UTR variant	C/T	snv		0.69	14
rs3999544	LOC105374985 ; H4C8	1.000	0.080	6	26285639	upstream gene variant	C/T	snv		0.69	1
rs132774	XRCC6	0.776	0.280	22	41635949	intron variant	C/G	snv		0.69	9
rs5751129	XRCC6 ; DESI1	0.752	0.320	22	41619761	intron variant	C/T	snv		0.69	14
rs228729	PER3	0.827	0.120	1	7785635	intron variant	T/C	snv	0.69	0.69	5
rs1862626		0.708	0.280	5	56737113	regulatory region variant	G/T	snv		0.68	17
rs11637635	CHRNA5	0.882	0.080	15	78584808	intron variant	A/G	snv		0.68	3
rs2252070	MMP13	0.752	0.320	11	102955810	upstream gene variant	C/T	snv		0.68	13
rs10519203	HYKK	0.851	0.080	15	78521704	intron variant	G/A	snv		0.67	8
rs4796793	STAT3	0.716	0.320	17	42390192	upstream gene variant	G/C	snv		0.67	16
rs762551	CYP1A2	0.701	0.400	15	74749576	intron variant	C/A	snv		0.67	23
rs7003908	PRKDC	0.716	0.320	8	47858141	intron variant	C/A	snv		0.66	16
rs1776148	EXO1	0.807	0.160	1	241879243	missense variant	A/G	snv	0.66	0.66	9
rs664677	ATM	0.807	0.160	11	108272455	intron variant	C/A;T	snv		0.65	8
rs512715	NEAT1 ; LOC107984338	0.790	0.120	11	65423737	non coding transcript exon variant	C/G	snv		0.65	7
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs7248320	CARD8 ; CARD8-AS1	0.776	0.160	19	48256972	non coding transcript exon variant	G/A	snv		0.65	8
rs4977756	CDKN2B-AS1	0.683	0.440	9	22068653	intron variant	G/A	snv		0.64	24
rs2869546	CHRNA3	0.851	0.120	15	78615003	intron variant	C/T	snv		0.64	5