DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Mitochondrial Myopathies ×

Variants associated to the Gene: FDX2 ×

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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
rs587777600	RAVER1 ; FDX2			19	10315996	missense variant	T/A;G	snv			1
rs888630930	ZGLP1 ; FDX2			19	10310616	missense variant	G/A	snv			1