DisGeNET - a database of gene-disease associations

List of associated variants

Colorectal Carcinoma, C0009402

Source: CURATED ×

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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
rs143046984	LOC105370557 ; PCNX1	0.790	0.080	14	70937529	intron variant	-/A	delins		4.2E-02	9
rs202110856	ERAP1	0.790	0.080	5	96794169	intron variant	-/C	delins		2.1E-05	9
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			1
rs587780078	MUTYH	0.882	0.120	1	45331514	frameshift variant	-/CC	delins	1.6E-04	2.7E-04	4
rs1567755946	AXIN2	0.925	0.080	17	65537563	frameshift variant	-/CGCGGGAGGCAGC	delins			2
rs377429877	STARD13	0.776	0.080	13	33518027	intron variant	-/TAA	delins		6.0E-02	10
rs587776642	BUB1	1.000	0.080	2	110638153	frameshift variant	A/-	del			1
rs587776687	PPARG	1.000	0.080	3	12392683	frameshift variant	A/-	delins			1
rs6058093	PIGU	0.776	0.080	20	34625392	intron variant	A/C	snv		0.55	12
rs16892766		0.716	0.240	8	116618444	intergenic variant	A/C	snv		9.3E-02	11
rs9924886	CDH3	0.776	0.080	16	68710036	intron variant	A/C	snv		0.25	10
rs10911251	LAMC1	0.790	0.080	1	183112059	intron variant	A/C	snv		0.37	9
rs16973225	LOC102724001	0.790	0.080	15	81937658	intron variant	A/C	snv		7.4E-02	9
rs2184857	LOC105373224	0.790	0.080	1	239918447	upstream gene variant	A/C	snv		0.45	9
rs6720296	LINC01121	0.790	0.080	2	45181130	intron variant	A/C	snv		0.52	9
rs73975588	NXN	0.790	0.080	17	913501	intron variant	A/C	snv		9.9E-02	9
rs1105879	UGT1A9 ; UGT1A6 ; UGT1A7 ; UGT1A10 ; UGT1A8	0.790	0.240	2	233693556	missense variant	A/C	snv	0.35	0.34	2
rs121909242	PPARG	0.925	0.080	3	12416825	missense variant	A/C	snv			2
rs1566734	PTPRJ	0.807	0.120	11	48123823	missense variant	A/C	snv	0.17	0.15	2
rs2069762	IL2	0.672	0.560	4	122456825	upstream gene variant	A/C	snv		0.24	2
rs848	IL13 ; TH2LCRR	0.807	0.240	5	132660808	3 prime UTR variant	A/C	snv		0.67	2
rs1414714315	EPHA3	1.000	0.080	3	89413239	missense variant	A/C	snv	8.0E-06		1
rs180177033	BRAF	1.000	0.080	7	140781620	missense variant	A/C	snv			1
rs63751121	FBXO11 ; MSH6	1.000	0.080	2	47799840	missense variant	A/C	snv	1.6E-05	4.9E-05	1
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		15