DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Adenomatous colonic polyposis ×

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
rs121913224	APC	0.742	0.200	5	112839515	frameshift variant	AAAGA/-	delins			13
rs587783031	APC	0.851	0.120	5	112840255	frameshift variant	A/-;AA	delins			7
rs587779352	APC	0.882	0.120	5	112838774	frameshift variant	ACAAA/-	delins			5
rs1554083930	APC	0.925	0.120	5	112837657	stop gained	C/A	snv			3
rs1057518901	APC	1.000	0.120	5	112840494	frameshift variant	C/-	delins			2