Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 CausalMutation CLINVAR Leigh syndrome: clinical features and biochemical and DNA abnormalities. 8602753

1996
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 CausalMutation CLINVAR A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. 8190310

1994
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 CausalMutation CLINVAR A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787

1993
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		G 0.800 CausalMutation CLINVAR Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. 1436530

1992
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		G 0.800 CausalMutation CLINVAR Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. 1550128

1992
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		G 0.800 CausalMutation CLINVAR A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. 2137962

1990