DisGeNET - a database of gene-disease associations

List of associated variants

GSD IV, Neuromuscular Form, Congenital, C1856304

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
rs137852890	GBE1	0.925	0.120	3	81536940	stop gained	C/A;T	snv			2
rs137852893	GBE1	0.925	0.120	3	81642989	missense variant	G/A	snv	1.3E-05		2
rs137852894	GBE1	0.925	0.120	3	81537071	stop gained	C/T	snv	1.1E-05		2
rs397515344	GBE1	0.925	0.120	3	81648851	splice region variant	C/G	snv			2
rs137852892	GBE1	1.000	0.120	3	81646466	missense variant	C/G	snv	2.1E-05	2.8E-05	1
rs397515342	GBE1	1.000	0.120	3	81642991	splice acceptor variant	C/T	snv			1