Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556423547
rs1556423547
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.700 CausalMutation CLINVAR CO2-sensitive tRNA modification associated with human mitochondrial disease. 29760464

2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.700 CausalMutation CLINVAR Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype. 30236074

2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.700 CausalMutation CLINVAR New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. 22638997

2012
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.700 CausalMutation CLINVAR Mitochondrial disorder associated with newborn cardiopulmonary arrest. 8511015

1993
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
dbSNP: rs1569463838
rs1569463838
NDUFA6 ; SMDT1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR

dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.700 CausalMutation CLINVAR Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. 15372523

2004
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.700 CausalMutation CLINVAR Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. 11085913

2001
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: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR

dbSNP: rs199730889
rs199730889
TRMT10C
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. 27132592

2016
dbSNP: rs200944917
rs200944917
TOP3A
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. 29290614

2018
dbSNP: rs267606897
rs267606897
CYTB ; ND5
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR

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

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

dbSNP: rs28937887
rs28937887
TWNK ; MRPL43
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs369227537
rs369227537
SPG7
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs370475970
rs370475970
GFER ; NOXO1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs370863743
rs370863743
RMND1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952

2016
dbSNP: rs376902371
rs376902371
TOP3A
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. 29290614

2018
dbSNP: rs387906421
rs387906421
CYTB ; ND6 ; TRNE
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR

dbSNP: rs387906899
rs387906899
OPA1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs397515421
rs397515421
RMND1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952

2016