Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. 16240359

2005
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT When does bilateral optic atrophy become Leber hereditary optic neuropathy? 8213825

1993
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. 1732158

1992
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003

1991