Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs755933881
rs755933881
COQ8A
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 GeneticVariation 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: rs113994097
rs113994097
POLG
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.720 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs1555745989
rs1555745989
ATP5F1D
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.710 CausalMutation CLINVAR Our data establish c.245C>T (p.Pro82Leu) and c.317T>G (p.Val106Gly) in ATP5F1D as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation. 29478781

2018
dbSNP: rs113994099
rs113994099
POLG
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		C 0.710 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
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: rs886037835
rs886037835
TMEM126B
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR Here, we describe the clinical, biochemical, and molecular findings in six cases of mitochondrial disease from four unrelated families affected by biallelic (c.635G>T [p.Gly212Val] and/or c.401delA [p.Asn134Ilefs(∗)2]) TMEM126B variants. 27374774

2016
dbSNP: rs886037773
rs886037773
RMND1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952

2016
dbSNP: rs886037772
rs886037772
RMND1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952

2016
dbSNP: rs886037771
rs886037771
RMND1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952

2016
dbSNP: rs875989831
rs875989831
TRMT10C
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.700 CausalMutation CLINVAR Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. 27132592

2016
dbSNP: rs863224028
rs863224028
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: rs80356530
rs80356530
OPA1 ; LOC102724808
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs80356529
rs80356529
OPA1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs797046003
rs797046003
SPG7
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		CT 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs781099275
rs781099275
NDUFA6 ; SMDT1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR

dbSNP: rs775256289
rs775256289
YARS2
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		ACTCCTGATCAGACATGAC 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs773470671
rs773470671
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: 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: rs771894262
rs771894262
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: rs763006208
rs763006208
NDUFA6 ; SMDT1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR

dbSNP: rs761283105
rs761283105
GFM2
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. 29075935

2017
dbSNP: rs758833609
rs758833609
NDUFA6 ; SMDT1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR