Gene: POLG ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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