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
rs961253		0.732	0.240	20	6423634	intergenic variant	C/A	snv		0.34	15
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
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
rs12947788	TP53	0.776	0.280	17	7674109	intron variant	G/A	snv		0.10	8
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs4444235		0.701	0.240	14	53944201	downstream gene variant	T/C	snv		0.43	23
rs3802842	COLCA2 ; COLCA1	0.695	0.280	11	111300984	intron variant	C/A	snv		0.71	25
rs1172901314	MRC1	0.851	0.160	10	17833714	missense variant	C/T	snv		7.0E-06	4
rs16892766		0.716	0.240	8	116618444	intergenic variant	A/C	snv		9.3E-02	18
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
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
rs587779333	PMS2 ; AIMP2	0.851	0.200	7	6009019	start lost	T/A;C;G	snv	4.0E-06; 2.8E-05		10
rs200640585	PMS2	0.790	0.280	7	5992018	stop gained	G/A	snv	1.6E-05	1.4E-05	9
rs63750250	PMS2	0.807	0.280	7	5986933	frameshift variant	-/T	delins	1.6E-05	4.2E-05	9
rs587778617	PMS2	0.807	0.240	7	5987504	stop gained	G/A	snv		7.0E-06	8
rs267608150	PMS2	0.851	0.320	7	5997388	stop gained	AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN	delins			7
rs587779338	PMS2	0.851	0.200	7	5977589	missense variant	G/A	snv	1.0E-05	2.1E-05	7
rs587779340	PMS2	0.882	0.200	7	6003794	splice acceptor variant	T/A;C;G	snv	4.1E-06		7
rs63750451	PMS2	0.827	0.160	7	5986883	stop gained	G/A;C	snv	1.6E-05		7
rs63751422	PMS2	0.882	0.280	7	5986838	stop gained	G/A	snv	4.0E-06	7.0E-06	7
rs143277125	PMS2	0.851	0.160	7	5992012	stop gained	G/A;T	snv	4.0E-06		6
rs267608161	PMS2	0.851	0.200	7	5982885	missense variant	C/T	snv	4.0E-05	2.8E-05	6