DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Colorectal Carcinoma ×

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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
rs13230517	ZNF727	1.000	0.080	7	64076947	intron variant	A/G	snv		0.65	1
rs1338565	ZNF239	1.000	0.080	10	43564228	intron variant	C/A;G	snv			1
rs3826392	ZNF18 ; MAP2K4	0.827	0.200	17	12019587	intron variant	G/T	snv		0.65	5
rs704017	ZMIZ1-AS1	0.776	0.080	10	79059375	intron variant	A/G	snv		0.55	1
rs12373	ZG16B	0.925	0.080	16	2832196	3 prime UTR variant	G/T	snv	0.66	0.63	2
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	14
rs11685387	XRCC5	0.776	0.240	2	216109091	splice region variant	C/T	snv		0.30	9
rs9288518	XRCC5	0.776	0.240	2	216196997	intron variant	A/G	snv		0.35	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
rs6869366	XRCC4 ; TMEM167A	0.701	0.280	5	83075927	intron variant	T/G	snv		9.2E-02	18
rs28360317	XRCC4	0.716	0.280	5	83323739	intron variant	-/CCT	delins		0.24	15
rs7727691	XRCC4 ; TMEM167A	0.763	0.200	5	83075876	intron variant	C/T	snv		0.32	9
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
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