Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041082
rs886041082
SLC25A4
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.700 CausalMutation CLINVAR

dbSNP: rs886041081
rs886041081
SLC25A4
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR

dbSNP: rs781099275
rs781099275
NDUFA6 ; SMDT1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR

dbSNP: rs763006208
rs763006208
NDUFA6 ; SMDT1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR

dbSNP: rs758833609
rs758833609
NDUFA6 ; SMDT1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR

dbSNP: rs755933881
rs755933881
COQ8A
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs750830935
rs750830935
NDUFA6 ; SMDT1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.700 CausalMutation CLINVAR

dbSNP: rs387906421
rs387906421
CYTB ; ND6 ; TRNE
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR

dbSNP: rs2853499
rs2853499
ND4 ; ND5
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs2853493
rs2853493
ND4 ; ND5
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs267606897
rs267606897
CYTB ; ND5
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR

dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR

dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR

dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1569463838
rs1569463838
NDUFA6 ; SMDT1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1556423547
rs1556423547
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121434453
rs121434453
CYTB ; ND6 ; TRNE
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR

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

dbSNP: rs1131692064
rs1131692064
ATP6 ; ATP8 ; COX2 ; COX3
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1131692063
rs1131692063
CYTB ; ND5
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1131692062
rs1131692062
ND4 ; ND5 ; TRNL2
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1131692061
rs1131692061
ND4 ; ND5 ; TRNL2
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1023075742
rs1023075742
NDUFA6 ; SMDT1 ; NDUFA6-DT
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR

dbSNP: rs772751581
rs772751581
OXA1L
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. 30201738

2018
dbSNP: rs1566433812
rs1566433812
OXA1L ; LOC105370404
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		TGCAGAGCA 0.700 CausalMutation CLINVAR OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. 30201738

2018