DisGeNET - a database of gene-disease associations

Disease: Hepatomegaly

Source: CLINVAR ×

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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
rs1567705064	G6PC	1.000	0.080	17	42907570	frameshift variant	ATGGTCACATCTA/-	del			8
rs1057516674	G6PC	0.882	0.160	17	42901026	frameshift variant	GT/-	del			5