DisGeNET - a database of gene-disease associations

Source: UNIPROT

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

Variants associated to the Gene: ND1 ×

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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
rs1599988	COX1 ; ND1 ; ND2	1.000	0.160	MT	4216	missense variant	T/C	snv			1
rs199476118	ND1 ; ND2	0.925	0.160	MT	3460	missense variant	G/A	snv			1
rs41460449	ND1 ; ND2	1.000	0.160	MT	3394	missense variant	T/C	snv			1
rs199476119	ND2 ; ND1 ; COX1	1.000	0.160	MT	4160	missense variant	T/C	snv			1