DisGeNET - a database of gene-disease associations

List of associated variants

Colorectal Carcinoma, C0009402

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
rs7727691	XRCC4 ; TMEM167A	0.763	0.200	5	83075876	intron variant	C/T	snv		0.32	9
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
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
rs3218408	XRCC2	0.882	0.120	7	152670531	intron variant	A/C;T	snv			3
rs3218384	XRCC2	1.000	0.080	7	152676167	upstream gene variant	C/G	snv		0.17	1
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
rs754041352	XRCC1	1.000	0.080	19	43552051	missense variant	G/A	snv	1.2E-05	7.0E-06	1
rs774388757	XRCC1	1.000	0.080	19	43553421	missense variant	C/T	snv	2.0E-05	4.2E-05	1
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
rs376040996	XPA	0.790	0.120	9	97687210	missense variant	T/C;G	snv	1.2E-05; 2.0E-05		7
rs1912804	WWOX	0.790	0.080	16	78592686	intron variant	C/G;T	snv			9
rs1346044	WRN	0.708	0.440	8	31167138	missense variant	T/C	snv	0.24	0.23	23
rs1801195	WRN	0.776	0.240	8	31141764	missense variant	G/A;T	snv	8.0E-06; 0.45	0.46	8
rs2230009	WRN	0.827	0.240	8	31064419	missense variant	G/A	snv	5.8E-02	7.8E-02	5
rs1445851476	WRN	1.000	0.080	8	31085179	missense variant	A/G	snv		7.0E-06	1
rs2725362	WRN	1.000	0.080	8	31141764	missense variant	G/A;T	snv			1
rs74903439	WDR49	1.000	0.080	3	167604375	missense variant	C/G;T	snv	4.0E-06; 1.4E-04		1
rs371373982	WDR48	1.000	0.080	3	39091696	missense variant	A/T	snv	4.2E-06		1
rs10883782	WBP1L	0.925	0.080	10	102824175	intron variant	A/G	snv		0.14	2