rs115488695

This is a intron variant variant in the HLA-DRB5 gene.

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GWAS Catalog Trait Associations (1)

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

body height

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele C
OR 0.03
p 2.0e-30
N 405,540
Large GWAS
European
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Research that mentions this SNP (1)

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Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing
Meta-analysisN=23,143Tapio Videman et al.(2009)· Arthritis &amp; Rheumatism

This genome-wide meta-analysis of sciatica in Finnish populations (291 cases, 3,671 controls in discovery; 776 cases, 18,489 controls in replication) identified five novel variants at two loci associated with sciatica at genome-wide significance. The strongest association was a single-base insertion rs71321981 (chr9:14344410:I) in the NFIB gene at 9p22.3 (p = 1.30×10⁻⁸, MAF = 0.08), which replicated in an independent Finnish sample (p = 0.04). Four additional variants at 15q21.2 in the MYO5A gene showed genome-wide significance (p = 1.34×10⁻⁸ to 4.78×10⁻⁸) but failed replication.

Traits studied:Degenerative lumbar spinal stenosis with radicular painLow back painLumbar disc degenerationLumbar disc herniationMusculoskeletal disordersOsteoarthritisSciatica
PubMedDOIMetascience Observatory

About HLA-DRB5

HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) 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. The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]

View all HLA-DRB5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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