rs3802457

This is a intron variant variant in the AOPEP gene.

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GWAS Catalog Trait Associations (2)

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

polycystic ovary syndrome

Shi Y et al. “Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.” Nature Genetics 44(9):1020-5 (2012)

Allele G

OR 1.30

p 5.0e-14

N 5,255

Large GWAS

East Asian

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele A

OR 0.01

p 5.0e-13

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

About AOPEP

This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

View all AOPEP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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