DisGeNET - a database of gene-disease associations

List of shared variants

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, C4014660

Disease: Movement Disorders

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
rs587777585	VARS2	0.882		6	30918851	missense variant	C/G;T	snv	2.4E-05		6
rs139515727	VARS2	1.000		6	30915985	missense variant	C/T	snv	3.2E-05	1.0E-04	2