DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Leigh Disease ×

Variants associated to the Gene: SCO2 ×

Results per page

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
rs759452074	SCO2 ; NCAPH2	0.925	0.200	22	50523835	missense variant	C/A;T	snv	8.0E-06; 3.2E-05		2
rs1352878283	NCAPH2 ; SCO2	1.000	0.120	22	50523639	missense variant	A/G	snv		7.0E-06	1