DisGeNET - a database of gene-disease associations

List of associated variants

Colonic Neoplasms, C0009375

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
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv	0.68	82
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv		48
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins		36
rs879253942	TP53	0.677	0.400	17	7673826	missense variant	A/G	snv		28
rs4939827	SMAD7	0.708	0.160	18	48927093	intron variant	T/A;C	snv		25
rs12953717	SMAD7	0.724	0.240	18	48927559	intron variant	C/T	snv	0.36	18
rs56848936	SYMPK	0.776	0.080	19	45818249	intron variant	A/G	snv	1.9E-02	11
rs63750206	MLH1	0.807	0.200	3	36996701	missense variant	G/A;C;T	snv		9
rs768824654	MSH2	1.000	0.120	2	47403390	start lost	A/G	snv	7.0E-06	6
rs1057519803	ERBB3	0.925	0.080	12	56088138	missense variant	G/A	snv		4
rs112431538	TP53	1.000	0.120	17	7673767	missense variant	C/T	snv	7.0E-06	4
rs7987649	FLT1	0.925	0.080	13	28320278	intron variant	A/G	snv	0.35	4
rs876660427	APC			5	112838608	missense variant	C/T	snv		4
rs587778966	MLH1	0.925	0.160	3	36996698	frameshift variant	-/C	delins		3
rs1219568637	EGFR			7	55143404	missense variant	G/A	snv	7.0E-06	2
rs412396				20	43657322	downstream gene variant	C/G	snv	0.77	2
rs4725431	PRKAG2			7	151776093	intron variant	T/C	snv	0.19	2
rs4771249	FLT1			13	28439277	intron variant	G/A;C	snv		2
rs6964824	PRKAG2			7	151654146	intron variant	T/C	snv	0.31	2
rs1064793236	PMS2			7	5986802	missense variant	C/T	snv	7.0E-06	1
rs17280262				14	96587587	upstream gene variant	C/T	snv	5.1E-02	1
rs1961177	CYP19A1			15	51332881	intron variant	C/T	snv	0.21	1
rs4812219				20	60847915	intergenic variant	C/T	snv	0.13	1