Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
A 0.700 GeneticVariation CLINVAR

dbSNP: rs113994099
rs113994099
POLG
0.020 GeneticVariation BEFREE Cardiac targeted Y955C POLG yielded a molecular signature of CPEO in the heart with cardiomyopathy (CM), mitochondrial oxidative stress, and premature death. 17310215

2007
dbSNP: rs113994099
rs113994099
POLG
0.020 GeneticVariation BEFREE The Y955C substitution in POLG leads to autosomal dominant progressive external ophthalmoplegia (PEO) with other severe phenotypes. 17725985

2007
dbSNP: rs1380006580
rs1380006580
CPOX
0.010 GeneticVariation BEFREE Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant. 29398297

2018
dbSNP: rs762436636
rs762436636
TWNK
0.010 GeneticVariation BEFREE Since in silico analyses revealed p.G655D could be a potentially pathogenic and it was absent in 200 healthy controls, p.G655D could be the causative factor for CPEO. 26689116

2016
dbSNP: rs758026634
rs758026634
TWNK ; MRPL43
0.010 GeneticVariation BEFREE Autosomal dominant progressive external ophthalmoplegia due to the p.R357P PEO1 mutation is a late-onset ocular myopathy beginning with ptosis and progressing slowly. 24018892

2013
dbSNP: rs1057521899
rs1057521899
TK2
0.010 GeneticVariation BEFREE Our TK2 activity measurements of patient fibroblasts and mutant recombinant proteins show that the combination of the identified arPEO variants, R225W and T230A, leads to a significant reduction in TK2 activity, consistent with the late-onset phenotype, whereas homozygosity for R225W, previously associated with MDS, leads to near-total loss of activity. 21937588

2012
dbSNP: rs1085307937
rs1085307937
TWNK
0.010 GeneticVariation BEFREE Six novel missense mutations contributing to the mutational load of PEO1 gene (p.R334P, p.W315S, p. S426N, p.W474S, p.F478I, p.E479K) were associated with an adult onset PEO phenotype. 18575922

2008
dbSNP: rs1408088932
rs1408088932
TWNK ; MRPL43
0.010 GeneticVariation BEFREE The results of screening for mutations in the nuclear genes associated with PEO and multiple mitochondrial DNA deletions, including those in POLG (polymerase gamma gene), ANT1 (gene encoding adenine nucleotide translocator 1), and PEO1, were negative, but sequencing of POLG2 revealed a G1247C mutation in exon 7, resulting in the substitution of a highly conserved glycine with an alanine at codon 416 (G416A). 18195150

2008
dbSNP: rs1463467386
rs1463467386
POLG ; MIR6766
0.010 GeneticVariation BEFREE Six novel missense mutations contributing to the mutational load of PEO1 gene (p.R334P, p.W315S, p. S426N, p.W474S, p.F478I, p.E479K) were associated with an adult onset PEO phenotype. 18575922

2008
dbSNP: rs17850455
rs17850455
POLG2 ; MILR1
0.010 GeneticVariation BEFREE The results of screening for mutations in the nuclear genes associated with PEO and multiple mitochondrial DNA deletions, including those in POLG (polymerase gamma gene), ANT1 (gene encoding adenine nucleotide translocator 1), and PEO1, were negative, but sequencing of POLG2 revealed a G1247C mutation in exon 7, resulting in the substitution of a highly conserved glycine with an alanine at codon 416 (G416A). 18195150

2008
dbSNP: rs17850455
rs17850455
POLG2 ; MILR1
0.010 GeneticVariation BEFREE The results of screening for mutations in the nuclear genes associated with PEO and multiple mitochondrial DNA deletions, including those in POLG (polymerase gamma gene), ANT1 (gene encoding adenine nucleotide translocator 1), and PEO1, were negative, but sequencing of POLG2 revealed a G1247C mutation in exon 7, resulting in the substitution of a highly conserved glycine with an alanine at codon 416 (G416A). 18195150

2008
dbSNP: rs121918055
rs121918055
POLG ; MIR6766
0.010 GeneticVariation BEFREE Autosomal dominant progressive external ophthalmoplegia segregated with 1532G>A in exon 8 and an intronic variant c.2070 + 158G>A in cis. 17420318

2007
dbSNP: rs104894632
rs104894632
POLG2 ; MILR1
0.010 GeneticVariation BEFREE We describe a heterozygous dominant mutation (c.1352G-->A/p.G451E) in POLG2, the gene encoding the p55 accessory subunit of pol gamma , that causes progressive external ophthalmoplegia with multiple mtDNA deletions and cytochrome c oxidase (COX)-deficient muscle fibers. 16685652

2006
dbSNP: rs28999114
rs28999114
SLC25A4
0.010 GeneticVariation BEFREE A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions. 12112115

2002