DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Colon Carcinoma ×

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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
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs760891242	XPC	0.925	0.080	3	14168309	missense variant	G/C	snv	4.0E-06	7.0E-06	3
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs1443465532	VEGFA	0.882	0.080	6	43774362	missense variant	G/C	snv	4.0E-06	7.0E-06	6
rs11832059	VDR	0.925	0.080	12	47879066	missense variant	A/C;G	snv	4.0E-06; 1.9E-03		2
rs1448674651	TYMS ; ENOSF1	0.667	0.560	18	671384	missense variant	G/A;C	snv	4.0E-06		23
rs187960998	TRPM1 ; MIR211	0.925	0.080	15	31065098	mature miRNA variant	C/T	snv	1.2E-05	6.3E-05	3
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			32
rs1131691029	TP53	0.827	0.160	17	7673794	missense variant	C/G	snv			6
rs77191406	TNFAIP3	0.790	0.280	6	137881704	3 prime UTR variant	C/T	snv		7.2E-04	12
rs187084	TLR9	0.641	0.480	3	52227015	intron variant	A/G	snv		0.38	36
rs352139	TLR9	0.732	0.320	3	52224356	intron variant	T/C	snv	0.51	0.54	18
rs352144	TLR9	0.925	0.080	3	52227452	intron variant	T/G	snv		3.7E-02	3
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs10759932	TLR4	0.732	0.560	9	117702866	upstream gene variant	T/C	snv		0.18	15
rs11536898	TLR4	0.882	0.080	9	117717932	3 prime UTR variant	C/A	snv		0.14	3
rs3775292	TLR3	0.851	0.080	4	186081871	non coding transcript exon variant	C/G	snv		0.82	5
rs11721827	TLR3	0.851	0.200	4	186069983	intron variant	A/C	snv		0.12	4