rs2307449

This is a downstream gene variant variant in the POLG gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

age at menopause

Stolk L et al. “Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.” Nature Genetics 44(3):260-8 (2012)
Allele G
OR 0.18
p 4.0e-13
N 38,968
Large GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

not specified

View on ClinVar →

About POLG

Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

View all POLG variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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