DisGeNET - a database of gene-disease associations

List of shared variants

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Disease: Neoplastic Syndromes, Hereditary

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs63750875	MSH2	0.742	0.280	2	47475171	missense variant	G/A;C	snv	1.6E-05		15
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
rs63750217	MLH1	0.807	0.240	3	37048955	missense variant	G/A;C	snv			10
rs200640585	PMS2	0.790	0.280	7	5992018	stop gained	G/A	snv	1.6E-05	1.4E-05	9
rs63750206	MLH1	0.807	0.200	3	36996701	missense variant	G/A;C;T	snv			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
rs63749795	MLH1	0.807	0.240	3	37028833	stop gained	C/T	snv			8
rs63749993	MSH2	0.882	0.200	2	47476424	missense variant	T/G	snv			8
rs63750741	FBXO11 ; MSH6	0.827	0.200	2	47799329	missense variant	T/C	snv	1.2E-05		8
rs1114167806	MSH2	0.827	0.200	2	47463096	stop gained	ATGA/-;ATGAATGA	delins			7
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
rs63749843	MSH6 ; FBXO11	0.827	0.240	2	47803449	stop gained	C/A;G;T	snv			7
rs63750451	PMS2	0.827	0.160	7	5986883	stop gained	G/A;C	snv	1.6E-05		7
rs63750899	MLH1	0.851	0.200	3	37048562	missense variant	C/G;T	snv			7
rs63751108	MSH2	0.827	0.240	2	47429881	stop gained	C/T	snv			7
rs63751194	MLH1	0.851	0.160	3	37017508	missense variant	C/A;T	snv	4.0E-06		7
rs63751422	PMS2	0.882	0.280	7	5986838	stop gained	G/A	snv	4.0E-06	7.0E-06	7
rs786201042	MSH6	0.827	0.240	2	47783243	stop gained	C/G;T	snv	2.5E-05		7