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: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys. 19269823

2009
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Unusual presentations of patients with the mitochondrial MERRF mutation A8344G. 18657354

2008
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. 17200493

2007
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. 17275787

2007
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation. 17293137

2007
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case. 16551460

2006
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation. 15164143

2005
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA. 12784281

2003
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: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		G 0.700 CausalMutation CLINVAR Clinical spectrum of mitochondrial DNA mutation at base pair 8344. 1678125

1991
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
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.700 CausalMutation CLINVAR

dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
CUI: C1838867
Disease: PARKINSON DISEASE, MITOCHONDRIAL (disorder)
PARKINSON DISEASE, MITOCHONDRIAL (disorder) 		G 0.700 CausalMutation CLINVAR