DisGeNET - a database of gene-disease associations

List of associated variants

GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC, C4017114

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
rs80338671	GBE1	0.851	0.120	3	81642787	missense variant	T/C;G	snv	4.5E-04; 3.2E-04		5
rs137852886	GBE1	0.925	0.080	3	81648876	missense variant	A/G	snv	4.4E-06	2.1E-05	3