DisGeNET - a database of gene-disease associations

List of associated variants

Colon Carcinoma, C0699790

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
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs16840252	CTLA4	0.776	0.480	2	203866796	upstream gene variant	C/T	snv		0.16	8
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46
rs910532454	CXCR4	0.882	0.080	2	136115453	missense variant	C/A;T	snv	4.0E-06		4
rs147198552	CXCR4	0.882	0.080	2	136115450	missense variant	C/T	snv	1.2E-05	7.0E-06	3
rs2470144	CYP19A1	0.925	0.080	15	51329528	intron variant	T/C	snv		0.60	2
rs6068816	CYP24A1	0.752	0.200	20	54164552	synonymous variant	C/T	snv	0.12	8.9E-02	12
rs2585428	CYP24A1	0.763	0.200	20	54170358	intron variant	C/T	snv		0.46	11
rs6022999	CYP24A1	0.790	0.160	20	54171474	intron variant	A/G	snv		0.36	9
rs4809960	CYP24A1	0.807	0.240	20	54169534	intron variant	T/C	snv		0.20	8
rs8124792	CYP24A1	0.827	0.120	20	54150268	downstream gene variant	G/A	snv		7.8E-02	6
rs1799853	CYP2C9	0.763	0.320	10	94942290	missense variant	C/T	snv	9.2E-02	8.9E-02	11
rs10741657	CYP2R1	0.637	0.520	11	14893332	upstream gene variant	A/G	snv		0.65	34
rs1287152741	DHFR	0.925	0.080	5	80633984	missense variant	C/T	snv	8.0E-06	1.4E-05	2
rs3742330	DICER1	0.662	0.640	14	95087025	3 prime UTR variant	A/G	snv		8.7E-02	24
rs1383147053	DLD	0.882	0.120	7	107901762	missense variant	G/A	snv			4
rs2228612	DNMT1	0.763	0.160	19	10162696	missense variant	T/A;C;G	snv	0.14		12
rs67376798	DPYD	0.851	0.120	1	97082391	missense variant	T/A	snv	2.8E-03	3.3E-03	9
rs773442580	EGF	0.851	0.080	4	109913367	missense variant	T/C;G	snv	4.0E-06		7
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs28929495	EGFR	0.807	0.120	7	55174014	missense variant	G/A;C;T	snv			9
rs909797662	EGFR	0.790	0.120	7	55191837	missense variant	G/A	snv			8
rs1051753269	EGFR	0.790	0.120	7	55174029	missense variant	G/A	snv		7.0E-06	7
rs4562	ELP5 ; CLDN7	0.925	0.080	17	7260420	missense variant	A/G	snv	0.65	0.70	3
rs3744400	ELP5 ; CLDN7	0.925	0.080	17	7260404	synonymous variant	A/C;G	snv	4.1E-02; 8.0E-06; 4.0E-06	2.4E-02	2