Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		G 0.700 CausalMutation CLINVAR "Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA (""MERRF mutation"")." 8170567

1993
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		G 0.700 CausalMutation CLINVAR Clinical spectrum of mitochondrial DNA mutation at base pair 8344. 1678125

1991