Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556423844
rs1556423844
ND3 ; ND4 ; ND4L ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		C 0.700 CausalMutation CLINVAR The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. 11935318

2002
dbSNP: rs1556423844
rs1556423844
ND3 ; ND4 ; ND4L ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		C 0.700 CausalMutation CLINVAR Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. 8680405

1995