DisGeNET - a database of gene-disease associations

List of associated variants

Polyglucosan Body Disease, Adult Form, C1849722

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
rs201958741	GBE1	0.851	0.120	3	81577999	missense variant	C/T	snv	3.3E-05	4.9E-05	4
rs80338673	GBE1	0.882	0.120	3	81577972	missense variant	C/T	snv	1.6E-05		4
rs192044702	GBE1	0.882	0.120	3	81648854	splice donor variant	A/G	snv	8.9E-04	7.7E-04	3
rs137852893	GBE1	0.925	0.120	3	81642989	missense variant	G/A	snv	1.3E-05		2
rs369574719	GBE1	1.000	0.120	3	81642988	missense variant	C/T	snv	3.0E-05	5.6E-05	1
rs752711257	GBE1	1.000	0.120	3	81586190	missense variant	C/G;T	snv	4.3E-06		1