DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Hepatoblastoma ×

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			8
rs137854574	APC	0.925	0.120	5	112828919	stop gained	C/T	snv			2
rs137854578	APC	1.000	0.040	5	112839777	missense variant	A/T	snv			1