DisGeNET - a database of gene-disease associations

List of associated variants

Malignant tumor of colon, C0007102

Source: CLINVAR ×

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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
rs4994	ADRB3	0.578	0.640	8	37966280	missense variant	A/G	snv	0.11	9.2E-02	1
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	10
rs137854575	APC	0.807	0.120	5	112838399	stop gained	C/A;G;T	snv	4.7E-04		9
rs387906234	APC	0.827	0.120	5	112839979	frameshift variant	AGAG/-;AG	delins			7
rs869312783	BMPR1A	1.000	0.080	10	86892181	frameshift variant	-/TTAG	delins			2
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		32
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs121913341	BRAF	0.851	0.280	7	140753350	missense variant	A/C;T	snv			3
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			2
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			1
rs431825362	BRCA2	0.925	0.080	13	32363187	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		2
rs587778134	BRIP1	0.851	0.320	17	61776459	frameshift variant	AA/-;AAAA	delins			5
rs587780226	BRIP1	0.882	0.280	17	61799125	stop gained	G/A;T	snv	1.2E-05		4
rs9344	CCND1	0.653	0.480	11	69648142	splice region variant	G/A	snv	0.45	0.39	3
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		12
rs137853007	CHEK2	0.790	0.240	22	28725254	missense variant	G/A;T	snv	5.2E-05		7
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv			1
rs121913412	CTNNB1	0.724	0.280	3	41224633	missense variant	A/C;G;T	snv			10
rs28929495	EGFR	0.807	0.120	7	55174014	missense variant	G/A;C;T	snv			3
rs63751012	EPM2AIP1 ; MLH1	0.851	0.200	3	36993656	stop gained	G/A;C;T	snv			4
rs267608058	FBXO11 ; MSH6	0.851	0.200	2	47800130	frameshift variant	TCAG/-	delins		7.0E-06	6
rs267608078	FBXO11 ; MSH6	0.882	0.160	2	47803501	frameshift variant	C/-;CC;CCC	delins			5
rs1021631442	FBXO11 ; MSH6	0.882	0.200	2	47806279	missense variant	G/A	snv			3
rs119490107	FSBP ; RAD54B	0.925	0.080	8	94399540	missense variant	C/A	snv	2.8E-05		1