Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28384199
rs28384199
ND4 ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		A 0.700 CausalMutation CLINVAR Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA. 12707444

2003
dbSNP: rs28384199
rs28384199
ND4 ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		A 0.700 CausalMutation CLINVAR A novel mtDNA C11777A mutation in Leigh syndrome. 16120329

2003