DisGeNET - a database of gene-disease associations

List of shared variants

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Disease: Polyp of large intestine

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
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
rs1799977	MLH1	0.662	0.440	3	37012077	missense variant	A/C;G;T	snv	0.23		28
rs1042821	MSH6	0.732	0.280	2	47783349	missense variant	G/A;C;T	snv	0.18; 8.6E-06		16
rs63751012	EPM2AIP1 ; MLH1	0.851	0.200	3	36993656	stop gained	G/A;C;T	snv			5
rs1021631442	FBXO11 ; MSH6	0.882	0.200	2	47806279	missense variant	G/A	snv			3
rs1553368590	MSH2	0.882	0.200	2	47475097	missense variant	T/A	snv			3
rs1553413710	MSH6 ; FBXO11	0.882	0.200	2	47800325	missense variant	C/T	snv			3
rs864622607	MSH6 ; FBXO11	0.882	0.200	2	47803678	missense variant	T/G	snv			3