rs1042133

This is a protein-altering variant in the HLA-DPA1 gene.

GWAS Catalog Trait Associations (8)

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

monocyte count

Allele C
OR 0.03
p 2.0e-34
N 394,642
Large GWAS
European
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.04
p 8.0e-32
N 408,112
Large GWAS
European
Allele C
OR 0.03
p 3.0e-12
N 170,721
Large GWAS
European

neutrophil count

Allele C
OR 0.03
p 1.0e-26
N 394,642
Large GWAS
European

CD4 molecule amount

Allele C
OR 0.07
p 3.0e-21
N 47,745
Large GWAS
European

lysosome membrane protein 2 amount

Allele C
OR 0.06
p 5.0e-17
N 47,745
Large GWAS
European

glycoprotein measurement

Allele C
OR 0.04
p 8.0e-17
N 199,732
Large GWAS
European

level of defensin beta 4A in blood

Allele C
OR 0.05
p 2.0e-13
N 47,745
Large GWAS
European

About HLA-DPA1

HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]

View all HLA-DPA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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