DisGeNET - a database of gene-disease associations

List of associated variants

MITOCHONDRIAL DNA DEPLETION SYNDROME 3, C4310935

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
rs763615602	DGUOK	0.882		2	73927047	missense variant	A/G	snv	2.5E-05	3.5E-05	3
rs886037846	DGUOK-AS1 ; DGUOK	1.000		2	73958235	missense variant	T/G	snv			1