DisGeNET - a database of gene-disease associations

List of associated variants

Colon Carcinoma, C0699790

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
rs2167270	LEP	0.724	0.280	7	128241296	5 prime UTR variant	G/A	snv		0.37	17
rs16906252	MGMT	0.732	0.200	10	129467281	synonymous variant	C/T	snv	5.5E-02	5.1E-02	19
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs2853668		0.882	0.080	5	1299910	upstream gene variant	G/T	snv		0.33	5
rs14035	RAN	0.742	0.320	12	130876696	3 prime UTR variant	C/T	snv		0.33	15
rs6918698	CCN2	0.851	0.200	6	131952117	intron variant	G/A;C	snv			5
rs12527379		1.000	0.080	6	131958700	intron variant	G/A	snv		0.31	1
rs202011365	IL4 ; LOC105379176	0.925	0.080	5	132679748	stop gained	C/A;G;T	snv	4.0E-06; 4.0E-06		2
rs147198552	CXCR4	0.882	0.080	2	136115450	missense variant	C/T	snv	1.2E-05	7.0E-06	3
rs910532454	CXCR4	0.882	0.080	2	136115453	missense variant	C/A;T	snv	4.0E-06		4
rs77191406	TNFAIP3	0.790	0.280	6	137881704	3 prime UTR variant	C/T	snv		7.2E-04	12
rs752021744	PIK3CB	0.689	0.440	3	138759306	missense variant	T/C	snv	1.2E-05		29
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			31
rs1238788540	BRAF	0.925	0.080	7	140800368	missense variant	G/C	snv	4.0E-06	7.0E-06	2
rs760891242	XPC	0.925	0.080	3	14168309	missense variant	G/C	snv	4.0E-06	7.0E-06	3
rs60745952	LOC107986195 ; LOC105377481	0.925	0.080	4	148827842	intron variant	T/C	snv		0.13	6
rs10741657	CYP2R1	0.637	0.520	11	14893332	upstream gene variant	A/G	snv		0.65	34
rs4696480	TLR2	0.716	0.400	4	153685974	intron variant	T/A	snv		0.45	19
rs3804099	TLR2	0.627	0.680	4	153703504	synonymous variant	T/C	snv	0.40	0.48	40
rs3804100	TLR2	0.633	0.720	4	153704257	synonymous variant	T/C	snv	9.0E-02	6.7E-02	36
rs7656411	TLR2	0.790	0.320	4	153706503	downstream gene variant	T/G	snv		0.35	8
rs9365723	SYNJ2	0.827	0.080	6	158014540	intron variant	A/C;G	snv		0.56	5
rs3093075		0.882	0.120	1	159710123	upstream gene variant	G/T	snv		0.13	5