DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Desmoid disease, hereditary ×

Variants associated to the Gene: APC ×

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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
rs137854573	APC	0.807	0.120	5	112828889	stop gained	C/T	snv			10
rs786201856	APC	0.776	0.200	5	112815507	stop gained	C/T	snv			10
rs137854575	APC	0.807	0.120	5	112838399	stop gained	C/A;G;T	snv	4.7E-04		9
rs62619935	APC	0.807	0.120	5	112792446	stop gained	C/G;T	snv	4.0E-06		8
rs145945630	APC	0.827	0.120	5	112754960	stop gained	C/T	snv	2.4E-05		7
rs397515734	APC	0.827	0.120	5	112792494	stop gained	C/T	snv			7
rs587781392	APC	0.827	0.120	5	112780895	stop gained	C/G;T	snv			7
rs863225311	APC	0.827	0.120	5	112819347	splice region variant	A/C;G	snv			7
rs876660765	APC	0.851	0.120	5	112815594	splice donor variant	G/A	snv			6
rs1554085355	APC	0.851	0.120	5	112839461	stop gained	T/A	snv			5
rs864622228	APC	0.925	0.120	5	112841416	frameshift variant	CAGA/-	delins			3