DisGeNET - a database of gene-disease associations

List of shared variants

Colon Carcinoma, C0699790

Disease: Carcinogenesis

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
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs2297518	NOS2	0.658	0.480	17	27769571	missense variant	G/A	snv	0.18	0.17	30
rs187115	CD44	0.695	0.320	11	35154612	intron variant	T/C	snv		0.37	22
rs876658657	MLH1	0.677	0.280	3	37020356	missense variant	A/G	snv	4.0E-06		25
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
rs36053993	MUTYH	0.677	0.280	1	45331556	missense variant	C/T	snv	3.0E-03	3.3E-03	31
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs4987188	MSH2	0.790	0.200	2	47416318	missense variant	G/A;T	snv	1.3E-02; 2.0E-05		11
rs148704956	IL17A	0.716	0.360	6	52187772	missense variant	A/G	snv	8.0E-06	7.0E-06	19
rs187084	TLR9	0.641	0.480	3	52227015	intron variant	A/G	snv		0.38	36
rs4444235		0.701	0.240	14	53944201	downstream gene variant	T/C	snv		0.43	23
rs121913495	GNAS	0.672	0.400	20	58909366	missense variant	G/A;T	snv			28
rs2279744	MDM2	0.605	0.640	12	68808800	intron variant	T/G	snv		0.31	48
rs35187787	CDH1	0.827	0.120	16	68822063	missense variant	G/A;T	snv	3.3E-03; 2.4E-05		6
rs9344	CCND1	0.653	0.480	11	69648142	splice region variant	G/A	snv	0.45	0.39	34
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
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
rs17878467	BIRC5	0.925	0.080	17	78214076	upstream gene variant	C/G;T	snv			6
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147