rs34437781

This is a coding sequence variant variant in the HLA-B gene.

GWAS Catalog Trait Associations (6)

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

C-C motif chemokine 8 level

Allele T
OR 0.11
p 2.0e-21
N 47,745
Large GWAS
European

platelet-derived growth factor subunit B level

Allele T
OR 0.11
p 2.0e-15
N 47,745
Large GWAS
European

platelet factor 4 level

Allele T
OR 0.10
p 4.0e-14
N 47,745
Large GWAS
European

dickkopf‐related protein 1 measurement

Allele T
OR 0.09
p 5.0e-13
N 47,745
Large GWAS
European

plasminogen activator inhibitor 1 measurement

Allele T
OR 0.09
p 7.0e-13
N 47,745
Large GWAS
European

asthma

Allele T
OR 1.09
p 2.0e-8
N 394,283
Large GWAS
multi-ancestry

About HLA-B

HLA-B 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. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 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. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]

View all HLA-B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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