rs3134792

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (2)

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

level of butyrophilin subfamily 2 member A1 in blood

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 0.11
p 2.0e-198
N 47,745
Large GWAS
European

membranous glomerulonephritis

Stanescu HC et al. “Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.” The New England Journal of Medicine 364(7):616-26 (2011)
Allele C
OR 3.93
p 6.0e-72
N 2,894
Large GWAS
European
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Research that mentions this SNP (2)

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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
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Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis
AssociationN=1,653Capon F. et al.(2007)· Human Genetics

A candidate gene study of 837 psoriasis cases and 816 controls identified protective variants in IL-23 signaling genes. IL23R p.Arg381Gln (rs11209026) showed reduced frequency in cases vs controls (P=0.00014, OR=0.49). IL12B variants rs10045431 (P=0.0001, OR=1.41) and rs3212227 (P=0.036, OR=0.76) showed independent associations, establishing IL23 receptor signaling as a major pathway in psoriasis susceptibility.

Traits studied:Psoriasis
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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