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

2017
dbSNP: rs113994097
rs113994097
POLG
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
POLG
0.720 GeneticVariation BEFREE Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 17088268

2006
dbSNP: rs113994099
rs113994099
POLG
C 0.710 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs113994099
rs113994099
POLG
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: rs1131691575
rs1131691575
POLG ; FANCI
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs113994096
rs113994096
POLG
A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs121918054
rs121918054
POLG
G 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs2307441
rs2307441
POLG
0.020 GeneticVariation BEFREE We identified a mitochondrial disease causing missense variation in polymerase domain of POLG1 protein at amino acid 1143 (E1143G) to be 25 times more prevalent in European-Americans (allele frequency 0.03777) when compared to African-American (allele frequency 0.00151) population. 26468652

2015
dbSNP: rs2307441
rs2307441
POLG
0.020 GeneticVariation BEFREE Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 17088268

2006
dbSNP: rs121918046
rs121918046
POLG
0.010 GeneticVariation BEFREE Subsequent Sanger sequencing of POLG in a further 275 unrelated probands with genetically unconfirmed mitochondrial disease revealed a third unrelated proband with a similar phenotype harboring homozygous c.1879C>T; p.R627W mutations and a fourth patient, with a milder clinical disorder, harboring compound heterozygous POLG c.1879C>T; p.R627W and c.2341G>A; p.A781T mutations. 31425757

2019