Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994097
rs113994097
G 0.720 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs113994097
rs113994097
0.720 GeneticVariation BEFREE Mitochondrial disorder was clinically suspected and a homozygous c.2243G>C mutation (p.Trp748Ser) was discovered in the POLG1 gene. 23248042

2012

dbSNP: rs113994097
rs113994097
0.720 GeneticVariation BEFREE Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 17088268

2006

dbSNP: rs1555745989
rs1555745989
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: rs1555745989
rs1555745989
0.710 GeneticVariation BEFREE 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
C 0.710 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs113994099
rs113994099
0.710 GeneticVariation BEFREE A POLG Y955C point mutation causes human chronic progressive external ophthalmoplegia (CPEO), a mitochondrial disease with eye muscle weakness and mtDNA defects. 17310215

2007

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

2018

dbSNP: rs1566433812
rs1566433812
TGCAGAGCA 0.700 CausalMutation CLINVAR OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. 30201738

2018

dbSNP: rs200944917
rs200944917
A 0.700 CausalMutation CLINVAR Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. 29290614

2018

dbSNP: rs376902371
rs376902371
C 0.700 CausalMutation CLINVAR Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. 29290614

2018

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

2018

dbSNP: rs111033573
rs111033573
A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs111033577
rs111033577
C 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs1131691575
rs1131691575
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs113994095
rs113994095
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs113994096
rs113994096
A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs121918054
rs121918054
G 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs1365700579
rs1365700579
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs1553877864
rs1553877864
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs1554042187
rs1554042187
G 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: rs1554887028
rs1554887028
A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs1554887097
rs1554887097
A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs1554887213
rs1554887213
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017