DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Nonpolyposis Colorectal Cancer, C1333990

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
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
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs486907	RNASEL	0.667	0.360	1	182585422	missense variant	C/T	snv	0.31	0.28	32
rs1799977	MLH1	0.662	0.440	3	37012077	missense variant	A/C;G;T	snv	0.23		28
rs3802842	COLCA2 ; COLCA1	0.695	0.280	11	111300984	intron variant	C/A	snv		0.71	25
rs1056827	CYP1B1 ; CYP1B1-AS1	0.683	0.400	2	38075034	missense variant	C/A	snv	0.32	0.35	24
rs4444235		0.701	0.240	14	53944201	downstream gene variant	T/C	snv		0.43	23
rs777980327	APC	0.716	0.280	5	112837567	missense variant	A/T	snv	4.0E-06	7.0E-06	21
rs16892766		0.716	0.240	8	116618444	intergenic variant	A/C	snv		9.3E-02	18
rs1042821	MSH6	0.732	0.280	2	47783349	missense variant	G/A;C;T	snv	0.18; 8.6E-06		16
rs961253		0.732	0.240	20	6423634	intergenic variant	C/A	snv		0.34	15
rs63750875	MSH2	0.742	0.280	2	47475171	missense variant	G/A;C	snv	1.6E-05		15
rs1060503115	PMS2	0.763	0.400	7	5978664	missense variant	T/A;G	snv			13
rs121434629	PMS2	0.763	0.320	7	6005918	missense variant	C/A;T	snv	1.6E-04; 8.1E-06		13
rs63750217	MLH1	0.807	0.240	3	37048955	missense variant	G/A;C	snv			10