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
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs895819	MIR23A ; LOC284454 ; MIR27A ; MIR24-2	0.623	0.560	19	13836478	non coding transcript exon variant	T/A;C;G	snv	0.34	0.38	46
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06		42
rs2298881	ERCC1	0.653	0.400	19	45423658	intron variant	C/A;T	snv			25
rs10411210	RHPN2	0.742	0.160	19	33041394	intron variant	C/T	snv		0.22	13
rs1051690	INSR	0.851	0.080	19	7116952	3 prime UTR variant	T/C	snv		0.83	4
rs767685429	TGFB1	0.882	0.120	19	41332206	missense variant	G/A;C	snv	2.8E-05; 8.0E-06		3
rs116896264	LGALS4	0.925	0.080	19	38813176	upstream gene variant	G/T	snv		9.0E-02	2
rs1419316960	DNMT1	0.925	0.080	19	10166651	missense variant	T/C	snv		7.0E-06	2
rs1725459	SIPA1L3	0.925	0.080	19	38049092	intron variant	C/A;G;T	snv			2
rs73933062	LGALS4	0.925	0.080	19	38812794	5 prime UTR variant	C/T	snv	0.12	9.1E-02	2
rs767449295	POLD1	0.925	0.080	19	50402669	missense variant	C/T	snv	1.7E-05	2.8E-05	2
rs4939827	SMAD7	0.708	0.160	18	48927093	intron variant	T/A;C	snv			25
rs12953717	SMAD7	0.724	0.240	18	48927559	intron variant	C/T	snv		0.36	18
rs2229080	DCC	0.742	0.320	18	52906232	missense variant	C/A;G	snv	0.45		16
rs11874392	SMAD7	0.763	0.080	18	48926786	intron variant	A/T	snv		0.50	11
rs4464148	SMAD7	0.827	0.120	18	48932662	intron variant	T/C	snv		0.25	7
rs2337107	SMAD7	0.882	0.120	18	48932953	intron variant	C/T	snv		0.52	3
rs9944880	DCC	0.882	0.120	18	53125996	intron variant	G/A	snv		5.3E-02	3
rs750248338	TYMS ; ENOSF1	0.925	0.080	18	670857	missense variant	C/T	snv	4.0E-06		2
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214