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
rs3761548	FOXP3	0.620	0.680	X	49261784	intron variant	G/A;T	snv			42
rs1088967		0.851	0.080	X	127010099	intergenic variant	T/A;C	snv			4
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs2071746	HMOX1	0.708	0.320	22	35380679	intron variant	A/T	snv		0.49	18
rs3747093	YDJC	0.732	0.200	22	21630090	upstream gene variant	G/A	snv		0.32	16
rs2236142	HSCB ; CHEK2	0.827	0.120	22	28741956	5 prime UTR variant	G/C	snv		0.66	6
rs9620817	CHEK2	0.851	0.120	22	28712568	intron variant	A/T	snv		8.4E-02	4
rs150742660	NCAPH2 ; SCO2	0.925	0.080	22	50523735	missense variant	A/G	snv	8.0E-06		3
rs373001	MIR301B ; MIR130B	0.925	0.080	22	21653137	intron variant	C/G;T	snv			2
rs5762748	CHEK2	0.925	0.080	22	28694902	intron variant	G/A	snv		6.3E-02	2
rs5995355	NCF4-AS1	0.925	0.080	22	36855419	intron variant	A/G;T	snv			2
rs777919630	CBS	0.623	0.680	21	43062358	missense variant	G/A;T	snv	8.0E-06; 4.0E-06		40
rs1237063529	CBS	0.752	0.360	21	43058894	missense variant	T/G	snv	5.6E-06		13
rs4998557	SOD1	0.851	0.080	21	31662579	intron variant	G/A	snv		0.22	4
rs3746444	MIR499A ; MIR499B ; MYH7B ; LOC107985393	0.514	0.760	20	34990448	mature miRNA variant	A/G	snv	0.20	0.19	105
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv		0.14	54
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		38
rs1799990	PRNP	0.683	0.440	20	4699605	missense variant	A/G	snv	0.31	0.33	23
rs4925386	LAMA5	0.776	0.080	20	62345988	intron variant	T/C	snv		0.56	14
rs1459997671	MMP9	0.882	0.120	20	46010963	synonymous variant	C/T	snv			3
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
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99