DisGeNET - a database of gene-disease associations

List of associated variants

Polyp of large intestine, C0949059

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
rs863224501	MUTYH	0.925	0.160	1	45331519	frameshift variant	TCACGGACGGG/-	delins		2.1E-05	4
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
rs1198119472	GSTA1	0.925	0.120	6	52799190	synonymous variant	A/G	snv		7.0E-06	2
rs267608022	MSH2	0.925	0.200	2	47482858	missense variant	C/G;T	snv	8.0E-06; 8.4E-05		2