Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1001570418
rs1001570418
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1003442806
rs1003442806
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1010372555
rs1010372555
POLG
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 GeneticVariation UNIPROT

dbSNP: rs1054875
rs1054875
POLG
CUI: C1629609
Disease: Age at menopause
Age at menopause 		T 0.700 GeneticVariation GWASCAT Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. 26414677

2015
dbSNP: rs1057517891
rs1057517891
POLG
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518035
rs1057518035
POLG ; FANCI
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1060501900
rs1060501900
POLG ; FANCI
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1064794213
rs1064794213
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		TCGG 0.700 GeneticVariation CLINVAR

dbSNP: rs1064794214
rs1064794214
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs1085307741
rs1085307741
POLG ; FANCI
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. 20185557

2010
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR The unfolding clinical spectrum of POLG mutations. 19578034

2009
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. 16957900

2007
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 GeneticVariation UNIPROT Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. 16401742

2006
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. 16401742

2006
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 GeneticVariation UNIPROT Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 GeneticVariation UNIPROT Early-onset familial parkinsonism due to POLG mutations. 16634032

2006
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 GeneticVariation UNIPROT Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. 16639411

2006
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 GeneticVariation UNIPROT Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273

2005
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 GeneticVariation UNIPROT Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. 15351195

2004
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 GeneticVariation UNIPROT Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene. 15349879

2004
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 GeneticVariation UNIPROT POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547

2004
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 GeneticVariation UNIPROT Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911

2003
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 GeneticVariation UNIPROT POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. 14635118

2003