DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Optic Atrophy, Hereditary, Leber ×

Variants associated to the Gene: ND4 ×

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
rs267606611	ND3 ; ND4 ; ND4L ; COX3 ; ATP6	1.000	0.160	MT	9438	missense variant	G/A	snv			1
rs200613617	ND3 ; ND4L ; COX3 ; ND4	1.000	0.160	MT	9804	missense variant	G/A	snv			1
rs193302933	ND4 ; ND3 ; ND5 ; ND4L	1.000	0.160	MT	10664	synonymous variant	C/T	snv			1
rs199476112	ND4 ; ND5	0.925	0.160	MT	11778	missense variant	G/A	snv			1
rs199476134	ND4L ; ND4 ; ATP6 ; COX3 ; ND3	1.000	0.160	MT	9101	missense variant	T/C	snv			1