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
rs9261204	ZNRD1ASP	0.790	0.200	6	30037466	intron variant	A/G	snv		0.17	9
rs3757328	ZNRD1 ; ZNRD1ASP	0.851	0.120	6	30060575	non coding transcript exon variant	G/A	snv		9.8E-02	6
rs17723637	ZNF462	0.882	0.080	9	106925122	missense variant	A/G	snv	0.14	0.13	3
rs760943842	ZNF436	0.851	0.080	1	23362976	missense variant	G/A	snv	4.0E-05	1.4E-05	5
rs1327135247	ZEB1	0.827	0.160	10	31510820	missense variant	C/T	snv	4.0E-06		5
rs1487151044	ZEB1	0.851	0.080	10	31510817	missense variant	T/C	snv			5
rs145204276	ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76	0.658	0.320	1	173868254	splice donor variant	CAAGG/-	delins		8.8E-02	31
rs3747093	YDJC	0.732	0.200	22	21630090	upstream gene variant	G/A	snv		0.32	16
rs2131877	XXYLT1	0.827	0.080	3	195137645	intron variant	G/A	snv		0.20	6
rs2025811	XRN2	0.882	0.080	20	21354475	intron variant	T/C	snv		0.89	3
rs5751129	XRCC6 ; DESI1	0.752	0.320	22	41619761	intron variant	C/T	snv		0.69	14
rs132774	XRCC6	0.776	0.280	22	41635949	intron variant	C/G	snv		0.69	9
rs6869366	XRCC4 ; TMEM167A	0.701	0.280	5	83075927	intron variant	T/G	snv		9.2E-02	18
rs7727691	XRCC4 ; TMEM167A	0.763	0.200	5	83075876	intron variant	C/T	snv		0.32	9
rs1805377	XRCC4	0.689	0.480	5	83353124	splice acceptor variant	G/A	snv	0.23	0.25	19
rs3734091	XRCC4	0.689	0.280	5	83204915	missense variant	G/T	snv	2.3E-02	1.4E-02	19
rs28360071	XRCC4	0.708	0.240	5	83142293	intron variant	GATGAGGAAACTAACTCTCAGTGGTGTTTA/-	delins		0.48	18
rs28360317	XRCC4	0.716	0.280	5	83323739	intron variant	-/CCT	delins		0.24	15
rs10040363	XRCC4	0.882	0.080	5	83177826	intron variant	A/G	snv		0.50	3
rs9293329	XRCC4	0.882	0.080	5	83100768	intron variant	G/A	snv		7.3E-02	3
rs745564626	XRCC3 ; KLC1	0.752	0.280	14	103699003	missense variant	C/G;T	snv	4.3E-05		14
rs3218536	XRCC2	0.620	0.440	7	152648922	missense variant	C/G;T	snv	4.0E-06; 6.4E-02		37
rs3213245	XRCC1 ; PINLYP	0.742	0.240	19	43575535	5 prime UTR variant	G/A	snv	0.65	0.60	13
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151