rs27895

This variant is located in the ERAP1 gene.

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GWAS Catalog Trait Associations (1)

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

endoplasmic reticulum aminopeptidase 1 amount

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele T

OR 0.23

p 1.0e-16

N 10,708

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

About ERAP1

The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]

View all ERAP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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