Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994099
rs113994099
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: rs200944917
rs200944917
0.700 CausalMutation CLINVAR Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. 29290614

2018

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

2018

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

2017

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

2017

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

2017

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

2017

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

2017

dbSNP: rs141542003
rs141542003
0.700 CausalMutation CLINVAR Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. 27374774

2017

dbSNP: rs28937887
rs28937887
0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs369227537
rs369227537
0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs370231886
rs370231886
0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs370475970
rs370475970
0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs387906899
rs387906899
0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs398124298
rs398124298
0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs515726180
rs515726180
0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs515726199
rs515726199
0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs746538436
rs746538436
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: rs761283105
rs761283105
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: rs775256289
rs775256289
0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs797046003
rs797046003
0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs80356529
rs80356529
0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs80356530
rs80356530
0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017

dbSNP: rs863224028
rs863224028
0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017