DisGeNET - a database of gene-disease associations

List of associated variants

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4, C4310733

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
rs748597500	DGUOK	0.882		2	73950732	splice region variant	G/A	snv	4.0E-05	4.9E-05	3
rs763615602	DGUOK	0.882		2	73927047	missense variant	A/G	snv	2.5E-05	3.5E-05	3
rs863223949	DGUOK	0.925		2	73957135	frameshift variant	GA/-	delins	8.0E-06		2
rs144181978	DGUOK	1.000		2	73950603	missense variant	T/A	snv	1.4E-04	2.0E-04	1
rs536746349	DGUOK	1.000		2	73950574	intron variant	C/G	snv		2.8E-05	1
rs762550967	DGUOK	1.000		2	73927040	stop gained	G/A;T	snv	2.5E-05; 4.1E-06		1
rs879255617	DGUOK	1.000		2	73938953	stop gained	C/A	snv			1