DisGeNET - a database of gene-disease associations

List of associated variants

Glycogen Storage Disease Type IV, C0017923

Source: UNIPROT ×

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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
rs137852886	GBE1	0.925	0.080	3	81648876	missense variant	A/G	snv	4.4E-06	2.1E-05	1
rs137852887	GBE1	0.925	0.080	3	81646403	missense variant	A/T	snv		1.4E-05	1
rs137852889	GBE1	1.000	0.080	3	81537080	missense variant	T/C	snv			1
rs137852891	GBE1	1.000	0.080	3	81535246	missense variant	T/C	snv	4.0E-06	1.4E-05	1
rs201958741	GBE1	0.851	0.120	3	81577999	missense variant	C/T	snv	3.3E-05	4.9E-05	1
rs80338673	GBE1	0.882	0.120	3	81577972	missense variant	C/T	snv	1.6E-05		1