DisGeNET - a database of gene-disease associations

List of shared variants

Hereditary Nonpolyposis Colorectal Neoplasms, C0009405

Disease: Lynch Syndrome

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
rs63750875	MSH2	0.742	0.280	2	47475171	missense variant	G/A;C	snv	1.6E-05		15
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
rs587778617	PMS2	0.807	0.240	7	5987504	stop gained	G/A	snv		7.0E-06	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
rs63751194	MLH1	0.851	0.160	3	37017508	missense variant	C/A;T	snv	4.0E-06		7
rs786201042	MSH6	0.827	0.240	2	47783243	stop gained	C/G;T	snv	2.5E-05		7
rs63749939	MLH1	0.851	0.160	3	36996702	missense variant	G/A	snv			6
rs63750138	MSH6 ; FBXO11	0.851	0.160	2	47800297	missense variant	C/A;G;T	snv	2.0E-05; 8.0E-06		6
rs63750211	MLH1	0.882	0.160	3	37008904	missense variant	A/G	snv			5
rs587779139	MSH2	0.925	0.160	2	47476513	stop gained	C/G;T	snv			4
rs63751624	MSH2	0.925	0.160	2	47480871	missense variant	G/A;C	snv			4