DisGeNET - a database of gene-disease associations

List of associated variants

Colorectal Neoplasms, C0009404

Source: ALL

Results per page

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
rs3802842	COLCA2 ; COLCA1	0.695	0.280	11	111300984	intron variant	C/A	snv		0.71	25
rs6589219	COLCA2 ; COLCA1	0.790	0.080	11	111302186	intron variant	G/C	snv		0.69	9
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs597808	ATXN2	0.742	0.200	12	111535554	intron variant	A/G	snv		0.67	19
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			25
rs121918465	PTPN11	0.827	0.200	12	112450407	missense variant	A/C;G;T	snv			7
rs397507546	PTPN11	0.790	0.360	12	112489084	missense variant	G/A;C;T	snv			9
rs12241008	VTI1A	0.716	0.160	10	112520943	intron variant	T/C	snv		0.13	16
rs12246635	VTI1A	0.776	0.080	10	112528860	intron variant	T/C	snv		0.13	10
rs12255141	VTI1A	0.790	0.080	10	112535133	intron variant	A/G;T	snv			9
rs10506868	VTI1A	0.716	0.160	10	112559621	intron variant	C/T	snv		3.1E-02	16
rs755229494	APC	0.776	0.080	5	112761654	intron variant	A/G	snv		9.6E-04	10
rs121913333	APC	0.882	0.120	5	112838220	stop gained	C/A;T	snv			6
rs869312784	APC			5	112838674	missense variant	A/G	snv			1
rs121913331	APC	0.851	0.120	5	112838934	stop gained	C/A;T	snv	8.0E-06		11
rs121913462	APC			5	112839510	stop gained	G/A;T	snv			1
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
rs863225349	APC	1.000	0.120	5	112839531	missense variant	A/G	snv			2
rs1801166	APC	0.732	0.200	5	112839543	missense variant	G/C	snv	4.4E-03	5.6E-03	17
rs121913327	APC	0.925	0.120	5	112839606	stop gained	C/G;T	snv			3
rs121913328	APC			5	112839693	stop gained	C/T	snv			1
rs121913329	APC			5	112839726	stop gained	C/T	snv			1
rs121913326	APC			5	112839729	stop gained	G/T	snv			1
rs74535574	APC			5	112839879	stop gained	C/A;T	snv			1