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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs11536898	TLR4	0.882	0.080	9	117717932	3 prime UTR variant	C/A	snv		0.14	3
rs11539752	LOC107984667 ; GZMB	0.882	0.120	14	24632383	missense variant	G/C	snv	0.21	0.26	6
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs11625206	MAP3K9	0.925	0.080	14	70727436	3 prime UTR variant	C/T	snv		0.26	2
rs11721827	TLR3	0.851	0.200	4	186069983	intron variant	A/C	snv		0.12	4
rs1179251	IL22 ; LOC105369818	0.763	0.320	12	68251271	intron variant	C/G	snv		0.18	14
rs11832059	VDR	0.925	0.080	12	47879066	missense variant	A/C;G	snv	4.0E-06; 1.9E-03		2
rs11923427	RAF1	0.925	0.080	3	12622336	intron variant	C/G;T	snv			2
rs11986055	IKBKB	0.882	0.080	8	42277660	intron variant	A/C;G	snv			3
rs1205	CRP	0.602	0.680	1	159712443	3 prime UTR variant	C/T	snv		0.30	46
rs1205454520	KLLN ; PTEN	0.763	0.120	10	87864059	5 prime UTR variant	-/G	delins		7.2E-06	10
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			31
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			44
rs121913314	SRC	0.851	0.120	20	37403359	stop gained	C/T	snv			5
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913495	GNAS	0.672	0.400	20	58909366	missense variant	G/A;T	snv			28
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs121913538	KRAS	0.882	0.080	12	25245328	missense variant	C/A;G	snv			3
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs1238788540	BRAF	0.925	0.080	7	140800368	missense variant	G/C	snv	4.0E-06	7.0E-06	2
rs12485716	CASR	0.925	0.080	3	122260843	intron variant	G/A	snv		0.36	2
rs12490683	LOC105377207 ; MYLKP1	0.925	0.080	3	75329934	non coding transcript exon variant	G/A	snv		0.46	2