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
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs777980327	APC	0.716	0.280	5	112837567	missense variant	A/T	snv	4.0E-06	7.0E-06	21
rs1143623	IL1B	0.677	0.440	2	112838252	upstream gene variant	C/G	snv		0.24	29
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs1801166	APC	0.732	0.200	5	112839543	missense variant	G/C	snv	4.4E-03	5.6E-03	17
rs459552	APC	0.752	0.320	5	112841059	missense variant	T/A;G	snv	0.79		14
rs2229995	APC	0.925	0.080	5	112843098	missense variant	G/A	snv	2.0E-02	1.7E-02	2
rs11196172	TCF7L2	0.708	0.200	10	112967084	intron variant	G/A	snv		0.13	18
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs7904519	TCF7L2	0.763	0.240	10	113014168	intron variant	A/G	snv		0.55	9
rs12255372	TCF7L2	0.667	0.480	10	113049143	intron variant	G/A;T	snv			28
rs419598	IL1RN	0.742	0.280	2	113129630	synonymous variant	T/C	snv	0.26	0.21	13
rs121913254	NRAS	0.658	0.440	1	114713909	stop gained	G/A;C;T	snv			31
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		26
rs7549819	MIR200B	0.925	0.080	1	1165623	upstream gene variant	C/T	snv		0.88	2
rs16892766		0.716	0.240	8	116618444	intergenic variant	A/C	snv		9.3E-02	18
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs7873784	TLR4	0.752	0.440	9	117716658	3 prime UTR variant	G/A;C;T	snv			11
rs11536891	TLR4	0.851	0.120	9	117717059	3 prime UTR variant	T/C	snv		0.16	4
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174