DisGeNET - a database of gene-disease associations

List of associated variants

Malignant tumor of colon, C0007102

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
rs1434898623	MLH1	1.000	0.080	3	37040295	splice donor variant	G/A	snv			3
rs869312781	SMAD4	1.000	0.080	18	51058435	frameshift variant	CCCCATCCCG/-	delins			2
rs869312783	BMPR1A	1.000	0.080	10	86892181	frameshift variant	-/TTAG	delins			2
rs1114167435	MLH1	1.000	0.080	3	37025932	frameshift variant	AG/-	delins			1
rs1339756947	MAP2K3	1.000	0.080	17	21303189	missense variant	C/A;T	snv	2.0E-05		1
rs1554298756	PMS2	1.000	0.080	7	5989891	frameshift variant	C/-	del			1
rs989026404	MAP2K3	1.000	0.080	17	21304500	missense variant	T/C;G	snv	4.0E-06		1
rs17878467	BIRC5	0.925	0.080	17	78214076	upstream gene variant	C/G;T	snv			6
rs60745952	LOC107986195 ; LOC105377481	0.925	0.080	4	148827842	intron variant	T/C	snv		0.13	6
rs4135113	TDG	0.925	0.080	12	103982915	missense variant	G/A;C;T	snv	4.7E-02		5
rs10222633	CASR	0.925	0.080	3	122258079	intron variant	G/A	snv		0.45	4
rs10934578	CASR	0.925	0.080	3	122258435	intron variant	G/T	snv		0.30	4
rs12591359	MIR4713HG ; CYP19A1	0.925	0.080	15	51247171	intron variant	G/A	snv		0.41	4
rs145188037	IGFBP3	0.925	0.080	7	45914866	missense variant	G/A	snv	1.1E-02	9.9E-03	4
rs2770150		0.925	0.080	9	117700861	upstream gene variant	A/G	snv		0.22	4
rs63750767	MSH6 ; FBXO11	0.925	0.160	2	47806588	stop gained	-/TCAAAAGGGACATAGAAAA	delins		7.0E-06	4
rs7987649	FLT1	0.925	0.080	13	28320278	intron variant	A/G	snv		0.35	4
rs1017621656	TGFB1	0.925	0.080	19	41352923	missense variant	A/C;G	snv	1.9E-05		3
rs1057519822	MAP2K1	0.925	0.080	15	66481818	missense variant	T/A	snv			3
rs1364898025	ATM	0.925	0.080	11	108227656	missense variant	G/A	snv			3
rs1440032367	COL11A2	0.925	0.080	6	33189169	missense variant	G/C	snv		7.0E-06	3
rs187960998	TRPM1 ; MIR211	0.925	0.080	15	31065098	mature miRNA variant	C/T	snv	1.2E-05	6.3E-05	3
rs352144	TLR9	0.925	0.080	3	52227452	intron variant	T/G	snv		3.7E-02	3
rs4562	ELP5 ; CLDN7	0.925	0.080	17	7260420	missense variant	A/G	snv	0.65	0.70	3
rs4648110	NFKB1 ; LOC105377347	0.925	0.080	4	102612664	intron variant	T/A	snv		0.22	3