DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Leigh Disease ×

Variants associated to the Gene: SDHA ×

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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
rs137852767	SDHA	0.925	0.120	5	251011	missense variant	C/T	snv			1
rs9809219	SDHA	0.925	0.120	5	251100	missense variant	C/T	snv	4.0E-05	1.4E-05	1