DisGeNET - a database of gene-disease associations

List of shared variants

Malignant tumor of colon, C0007102

Disease: Neoplasm Metastasis

Source: ALL

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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
rs1179251	IL22 ; LOC105369818	0.763	0.320	12	68251271	intron variant	C/G	snv		0.18	14
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs2282679	GC	0.645	0.480	4	71742666	intron variant	T/G	snv		0.21	38
rs60745952	LOC107986195 ; LOC105377481	0.925	0.080	4	148827842	intron variant	T/C	snv		0.13	6
rs7758229	SLC22A3	0.732	0.120	6	160419220	intron variant	G/A;T	snv			16
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			32
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
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
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs1284806277	MOK	0.827	0.200	14	102251978	missense variant	A/G	snv		1.4E-05	13
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs28929495	EGFR	0.807	0.120	7	55174014	missense variant	G/A;C;T	snv			9
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs629849	IGF2R	0.827	0.160	6	160073377	missense variant	A/C;G;T	snv	0.90	0.91	9
rs752021744	PIK3CB	0.689	0.440	3	138759306	missense variant	T/C	snv	1.2E-05		29
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			32
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs2555639		0.851	0.080	4	174540379	non coding transcript exon variant	T/C	snv		0.38	7