DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of colon and/or rectum, C4722085

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 GENOME	Num. diseases
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv		480
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv		306
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
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv		121
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv	0.69	119
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv	0.41	113
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv	0.28	105
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv		93
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv	0.57	92
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv	0.52	83
rs1800796	IL6-AS1 ; STEAP1B ; IL6	0.555	0.760	7	22726627	non coding transcript exon variant	G/C	snv	9.9E-02	74
rs25531	SLC6A4 ; LOC105371720	0.581	0.520	17	30237328	upstream gene variant	T/C	snv	0.18	72
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv		63
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv	0.37	62
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv	0.67	62
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv	0.32	60
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv	0.51	58
rs5275	PTGS2	0.583	0.560	1	186673926	3 prime UTR variant	A/G;T	snv		55
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv	0.14	54
rs1501299	ADIPOQ ; ADIPOQ-AS1	0.597	0.720	3	186853334	intron variant	G/C;T	snv		52
rs2279744	MDM2	0.605	0.640	12	68808800	intron variant	T/G	snv	0.31	48
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv		48
rs1205	CRP	0.602	0.680	1	159712443	3 prime UTR variant	C/T	snv	0.30	46
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv	0.16	46