rs2023472

This is a synonymous variant in the TRIM31 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (4)

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

lymphocyte count

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele A
OR —
p 6.0e-25
N 234,778
Large GWAS
European

collagen alpha-1(I) chain measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 1.0e-14
N 47,745
Large GWAS
European

level of kallikrein-10 in blood serum

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 4.0e-13
N 47,745
Large GWAS
European
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Research that mentions this SNP (1)

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Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin
AssociationN=6,738Adrienne Tin et al.(2013)· Human Genetics

Genome-wide association study of plasma beta-2 microglobulin (B2M) levels in 6,738 European Americans identified two genome-wide significant loci: the HLA region on chromosome 6 (rs9264638, p=1.8×10⁻²³) and SH2B3 on chromosome 12 (rs3184504, p=3.1×10⁻⁸). Six index SNPs in the HLA region accounted for 3.2% of log(B2M) variance and their associations were largely explained by imputed classical HLA alleles (HLA-A, HLA-B, HLA-C). The HLA locus was not associated with estimated glomerular filtration rate, while the SH2B3 locus had previously been implicated as an eGFR locus, confirming B2M as a kidney function biomarker.

Traits studied:Chronic kidney diseaseGlomerular filtration rate (eGFRcr)Kidney functionPlasma beta-2 microglobulin levels
PubMedDOIMetascience Observatory

About TRIM31

This gene encodes a protein that functions as an E3 ubiquitin-protein ligase. This gene shows altered expression in certain tumors and may be a negative regulator of cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

View all TRIM31 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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