DisGeNET - a database of gene-disease associations

List of associated variants

Adenocarcinoma of large intestine, C1319315

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		484
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	70
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv		0.37	55
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	51
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	31
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		29
rs10505477	CASC8 ; PCAT1 ; POU5F1B	0.658	0.400	8	127395198	intron variant	A/G	snv		0.40	19
rs10936599	MYNN	0.637	0.600	3	169774313	synonymous variant	C/T	snv	0.29	0.21	18
rs3802842	COLCA2 ; COLCA1	0.695	0.280	11	111300984	intron variant	C/A	snv		0.71	17
rs4939827	SMAD7	0.708	0.160	18	48927093	intron variant	T/A;C	snv			16
rs4444235		0.701	0.240	14	53944201	downstream gene variant	T/C	snv		0.43	15
rs4246215	FADS2 ; FEN1	0.677	0.320	11	61796827	3 prime UTR variant	G/C;T	snv			14
rs2735940	TERT	0.689	0.400	5	1296371	upstream gene variant	A/G	snv		0.49	14
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		11
rs12953717	SMAD7	0.724	0.240	18	48927559	intron variant	C/T	snv		0.36	11
rs16892766		0.716	0.240	8	116618444	intergenic variant	A/C	snv		9.3E-02	10
rs11196172	TCF7L2	0.708	0.200	10	112967084	intron variant	G/A	snv		0.13	10
rs10795668	LOC105376400	0.724	0.160	10	8659256	upstream gene variant	G/A	snv		0.24	9
rs4779584		0.732	0.160	15	32702555	intergenic variant	T/C	snv		0.67	8
rs9929218	CDH1	0.732	0.160	16	68787043	intron variant	G/A	snv		0.28	8
rs7758229	SLC22A3	0.732	0.120	6	160419220	intron variant	G/A;T	snv			8
rs10506868	VTI1A	0.716	0.160	10	112559621	intron variant	C/T	snv		3.1E-02	8