rs12207974

This is a upstream gene variant variant in the HLA-E gene.

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GWAS Catalog Trait Associations (2)

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

psoriasis

Zhang M et al. “Multi-ancestry genome-wide meta-analysis with 472,819 individuals identifies 32 novel risk loci for psoriasis.” Journal of Translational Medicine 23(1):133 (2025)
Allele C
OR 0.10
p 1.0e-19
N 472,819
Meta-analysisLarge GWAS
multi-ancestry

asthma

Pividori M et al. “Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.” The Lancet. Respiratory Medicine 7(6):509-522 (2019)
Allele C
OR 1.07
p 9.0e-11
N 37,846
Large GWAS
European

About HLA-E

HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. [provided by RefSeq, Jul 2008]

View all HLA-E variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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