DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of lung, C0242379

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
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
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs1214285376	XRCC1	0.776	0.200	19	43543490	missense variant	G/T	snv	4.0E-06		8
rs148611340	XRCC1	0.790	0.120	19	43543621	missense variant	G/A;C	snv	4.0E-06; 1.2E-05		7
rs199613843	XRCC1	0.807	0.160	19	43551609	synonymous variant	C/T	snv	4.0E-06	7.0E-06	6
rs2854509	XRCC1	0.807	0.160	19	43570445	intron variant	T/G	snv		0.80	6
rs2307191	XRCC1	0.827	0.120	19	43553616	missense variant	G/A	snv	1.2E-03	4.8E-03	5
rs72554204	XRCC1	0.827	0.120	19	43546062	missense variant	C/T	snv	1.2E-04	1.3E-04	5
rs200842482	XRCC1	0.851	0.120	19	43551592	missense variant	C/T	snv	1.6E-05	1.4E-05	4
rs2307181	XRCC1	0.851	0.120	19	43544170	synonymous variant	G/A;C	snv	6.1E-05		4
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs183167499	XPC	0.882	0.080	3	14146131	missense variant	G/A;C	snv	8.2E-06; 1.0E-04		3
rs1800975	XPA	0.701	0.360	9	97697296	5 prime UTR variant	T/C;G	snv	0.63; 4.5E-06; 4.5E-06		19
rs376040996	XPA	0.790	0.120	9	97687210	missense variant	T/C;G	snv	1.2E-05; 2.0E-05		7
rs1408543226	XPA	0.807	0.240	9	97675558	missense variant	A/G	snv		7.0E-06	6
rs383362	WWOX ; MAF	0.882	0.080	16	79211923	missense variant	G/T	snv	0.44	0.46	4
rs3764340	WWOX	0.807	0.280	16	78432540	missense variant	C/G	snv	7.1E-02	7.4E-02	9
rs12918952	WWOX	0.851	0.120	16	78386878	missense variant	G/A;C;T	snv			7
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs10506868	VTI1A	0.716	0.160	10	112559621	intron variant	C/T	snv		3.1E-02	16
rs12241008	VTI1A	0.716	0.160	10	112520943	intron variant	T/C	snv		0.13	16