DisGeNET - a database of gene-disease associations

List of shared variants

Neoplasm Metastasis, C0027627

Disease: Malignant neoplasm of colon and/or rectum

Source: BEFREE ×

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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
rs2555639		0.851	0.080	4	174540379	non coding transcript exon variant	T/C	snv		0.38	7
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	75
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		484
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			31
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs1458766475	C1orf112 ; SELE	0.637	0.680	1	169732649	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		41
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
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
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		45
rs2306536	CHFR	0.925	0.080	12	132847076	missense variant	C/T	snv	0.18	0.21	3
rs1205	CRP	0.602	0.680	1	159712443	3 prime UTR variant	C/T	snv		0.30	45
rs1800947	CRP	0.683	0.440	1	159713648	splice region variant	C/A;G;T	snv	4.4E-05; 5.1E-02; 4.0E-06		27
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46
rs781172058	CXCR4	0.732	0.320	2	136115340	synonymous variant	C/T	snv	4.0E-06		16
rs2229080	DCC	0.742	0.320	18	52906232	missense variant	C/A;G	snv	0.45		16
rs2227983	EGFR	0.658	0.520	7	55161562	missense variant	G/A;C;T	snv	0.29		31
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs1800734	EPM2AIP1 ; MLH1	0.653	0.400	3	36993455	5 prime UTR variant	G/A	snv		0.22	30
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		33
rs34296044	EXO1	0.925	0.080	1	241885371	frameshift variant	C/-	delins			3
rs4149963	EXO1	0.851	0.120	1	241872080	missense variant	C/T	snv	0.11; 6.8E-05	7.6E-02	7
rs9350	EXO1	0.742	0.240	1	241885372	missense variant	C/T	snv	0.21	0.19	16
rs351855	FGFR4	0.597	0.560	5	177093242	missense variant	G/A	snv	0.33	0.26	55
rs2282679	GC	0.645	0.480	4	71742666	intron variant	T/G	snv		0.21	36