Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516062
rs1057516062
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		C 0.700 GeneticVariation CLINVAR In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 28027978

2017