rs9822268

This variant is located in the APEH gene.

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GWAS Catalog Trait Associations (2)

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

ulcerative colitis

Anderson CA et al. “Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.” Nature Genetics 43(3):246-52 (2011)
Allele A
OR 1.21
p 2.0e-17
N 26,405
Meta-analysisLarge GWAS
European

household income

Hill WD et al. “Genome-wide analysis identifies molecular systems and 149 genetic loci associated with income.” Nature Communications 10(1):5741 (2019)
Allele A
OR 0.01
p 7.0e-11
N 286,301
Large GWAS
European

About APEH

This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008]

View all APEH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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