DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of colon and/or rectum, C4722085

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
rs1138272	GSTP1	0.611	0.600	11	67586108	missense variant	C/T	snv	5.9E-02	5.5E-02	42
rs1143623	IL1B	0.677	0.440	2	112838252	upstream gene variant	C/G	snv		0.24	29
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs11536891	TLR4	0.851	0.120	9	117717059	3 prime UTR variant	T/C	snv		0.16	4
rs11556218	IL16	0.653	0.600	15	81305928	missense variant	T/G	snv	9.6E-02	0.12	27
rs11568591	ABCC3	0.925	0.080	17	50683692	missense variant	G/A	snv	3.7E-02	3.9E-02	2
rs11574143	VDR	0.827	0.200	12	47841134	downstream gene variant	C/T	snv		0.11	5
rs115797771	KLF5	0.807	0.080	13	73064505	intron variant	A/C	snv		5.8E-02	6
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs11685387	XRCC5	0.776	0.240	2	216109091	splice region variant	C/T	snv		0.30	9
rs116896264	LGALS4	0.925	0.080	19	38813176	upstream gene variant	G/T	snv		9.0E-02	2
rs11704	CINP ; ZNF839	0.925	0.080	14	102342318	3 prime UTR variant	G/C	snv		0.26	2
rs117251022	ARL11	0.827	0.120	13	49630641	missense variant	G/A;C;T	snv	8.8E-05; 1.9E-03		5
rs1172901314	MRC1	0.851	0.160	10	17833714	missense variant	C/T	snv		7.0E-06	4
rs1176119168	HSPA1B	0.925	0.080	6	31828202	missense variant	G/A;T	snv	1.9E-05		2
rs118049207	SND1	0.925	0.080	7	127890817	intron variant	A/G	snv		1.7E-03	2
rs1183194405	F2	0.716	0.440	11	46719773	missense variant	G/A;T	snv	4.5E-06; 4.5E-06		19
rs11874392	SMAD7	0.763	0.080	18	48926786	intron variant	A/T	snv		0.50	11
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs1194338		0.925	0.080	11	65493967	upstream gene variant	C/A;T	snv			3
rs11943456	TMEM165	0.708	0.320	4	55410167	intron variant	T/C	snv		0.42	18
rs12037879	LEPR	0.925	0.080	1	65477024	intron variant	G/A;T	snv			5
rs1205	CRP	0.602	0.680	1	159712443	3 prime UTR variant	C/T	snv		0.30	46
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70