rs2236918

This is a intron variant variant in the EXO1 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

Day FR et al. “Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.” Nature Genetics 47(11):1294-1303 (2015)

Allele C

OR 0.15

p 8.0e-14

N 69,626

Large GWAS

European

About EXO1

This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]

View all EXO1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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