DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Source: CLINVAR ×

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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		22
rs121434629	PMS2	0.763	0.320	7	6005918	missense variant	C/A;T	snv	1.6E-04; 8.1E-06		12
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	10
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	9
rs63750250	PMS2	0.807	0.280	7	5986933	frameshift variant	-/T	delins	1.6E-05	4.2E-05	9
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	8
rs63750206	MLH1	0.807	0.200	3	36996701	missense variant	G/A;C;T	snv			7
rs1114167806	MSH2	0.827	0.200	2	47463096	stop gained	ATGA/-;ATGAATGA	delins			7
rs63751108	MSH2	0.827	0.240	2	47429881	stop gained	C/T	snv			7
rs63749843	MSH6 ; FBXO11	0.827	0.240	2	47803449	stop gained	C/A;G;T	snv			7
rs267608150	PMS2	0.851	0.320	7	5997388	stop gained	AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN	delins			7
rs587779340	PMS2	0.882	0.200	7	6003794	splice acceptor variant	T/A;C;G	snv	4.1E-06		7
rs63751422	PMS2	0.882	0.280	7	5986838	stop gained	G/A	snv	4.0E-06	7.0E-06	7
rs267608058	FBXO11 ; MSH6	0.851	0.200	2	47800130	frameshift variant	TCAG/-	delins		7.0E-06	6
rs63749999	FBXO11 ; MSH6	0.851	0.240	2	47801086	stop gained	C/T	snv	1.2E-05		6
rs63751017	FBXO11 ; MSH6	0.851	0.240	2	47800714	stop gained	C/A;T	snv		1.4E-05	6
rs267607720	MLH1	0.851	0.240	3	37000952	splice region variant	C/G;T	snv			6
rs267607768	MLH1	0.851	0.240	3	37011867	splice region variant	G/A;C	snv			6
rs267607871	MLH1	0.851	0.240	3	37048515	splice acceptor variant	A/G	snv	4.0E-06		6
rs63749795	MLH1	0.807	0.240	3	37028833	stop gained	C/T	snv			6
rs63750217	MLH1	0.807	0.240	3	37048955	missense variant	G/A;C	snv			6
rs63750540	MLH1	0.851	0.240	3	37025979	stop gained	A/T	snv			6
rs63750781	MLH1	0.851	0.160	3	37004444	missense variant	C/G;T	snv	4.0E-06		6
rs63751275	MLH1	0.851	0.240	3	37048973	missense variant	C/A;G;T	snv	1.2E-05; 2.0E-05		6
rs267607940	MSH2	0.851	0.240	2	47416430	splice donor variant	G/A;T	snv			6