Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692037
rs1131692037
NME3 ; MRPS34 ; EME2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs113994093
rs113994093
POLG
0.700 GeneticVariation UNIPROT Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. 18828154

2009
dbSNP: rs113994098
rs113994098
POLG
0.700 GeneticVariation UNIPROT Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. 18828154

2009
dbSNP: rs1161932777
rs1161932777
NME3 ; MRPS34 ; EME2
A 0.700 CausalMutation CLINVAR Specific binding of Leu-enkephalin to small and large intestinal epithelial cells from guinea-pig. 2877793

1986
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
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
G 0.700 CausalMutation CLINVAR Clinical spectrum of mitochondrial DNA mutation at base pair 8344. 1678125

1991
dbSNP: rs118192100
rs118192100
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
A 0.700 CausalMutation CLINVAR G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome. 11108511

2000
dbSNP: rs121908576
rs121908576
BCS1L ; ZNF142
T 0.700 CausalMutation CLINVAR

dbSNP: rs121908577
rs121908577
BCS1L
A 0.700 CausalMutation CLINVAR Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340

2007
dbSNP: rs121908577
rs121908577
BCS1L
A 0.700 CausalMutation CLINVAR Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 24172246

2013
dbSNP: rs121908577
rs121908577
BCS1L
A 0.700 CausalMutation CLINVAR Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. 25895478

2015
dbSNP: rs121908577
rs121908577
BCS1L
A 0.700 CausalMutation CLINVAR Nuclear gene mutations as the cause of mitochondrial complex III deficiency. 25914718

2015
dbSNP: rs121908577
rs121908577
BCS1L
A 0.700 CausalMutation CLINVAR Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. 19389488

2009
dbSNP: rs121918657
rs121918657
SURF1
A 0.700 CausalMutation CLINVAR Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. 9837813

1998
dbSNP: rs121918657
rs121918657
SURF1
A 0.700 CausalMutation CLINVAR SURF1 deficiency: a multi-centre natural history study. 23829769

2013
dbSNP: rs121918657
rs121918657
SURF1
A 0.700 CausalMutation CLINVAR Leigh syndrome transmitted by uniparental disomy of chromosome 9. 10636738

1999
dbSNP: rs121918658
rs121918658
SURF1
0.700 GeneticVariation UNIPROT Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations. 22410471

2012
dbSNP: rs121918658
rs121918658
SURF1
0.700 GeneticVariation UNIPROT SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. 9843204

1998
dbSNP: rs121918658
rs121918658
SURF1
0.700 GeneticVariation UNIPROT Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. 10647889

1999
dbSNP: rs121918658
rs121918658
SURF1
0.700 GeneticVariation UNIPROT SURF1-associated Leigh syndrome: a case series and novel mutations. 22488715

2012
dbSNP: rs121918658
rs121918658
SURF1
0.700 GeneticVariation UNIPROT SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome. 14564068

2001
dbSNP: rs121918658
rs121918658
SURF1
0.700 GeneticVariation UNIPROT Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. 10746561

2000
dbSNP: rs121918658
rs121918658
SURF1
0.700 GeneticVariation UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
dbSNP: rs1267554976
rs1267554976
NDUFS8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1319811735
rs1319811735
SURF1
0.700 GeneticVariation UNIPROT