rs148594123

This variant is located in the CD40LG gene.

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GWAS Catalog Trait Associations (2)

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

CD40 ligand measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.47
p 2.0e-32
N 10,708
Large GWAS
European
Enroth S et al. “Strong effects of genetic and lifestyle factors on biomarker variation and use of personalized cutoffs.” Nature Communications 5:4684 (2014)
Allele A
OR 0.96
p 1.0e-25
N 970
Small GWAS

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele A
OR 0.69
p 4.0e-23
N 5,365
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
6 submitters8 publications

Hyper-IgM syndrome type 1; not specified; not provided

View on ClinVar →
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Research that mentions this SNP (1)

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A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency
FunctionalN=41Hong-Ying Wang et al.(2010)· Human Mutation

This paper describes the development of a custom 148-gene resequencing microarray chip (Hyper-IgM/CVID chip) for mutation screening in patients with antibody deficiency disorders. The authors identified disease-causing mutations in known genes (CD40LG, AICDA, IKBKG, TNFRSF13B) and discovered rare disease-associated variants in TRAF3IP2 (rs33980500:G>A with OR>2 and rs13190932:C>T with OR>2) in 41% of screened patients with Hyper-IgM or CVID.

Traits studied:Antibody deficiencyCommon Variable Immunodeficiency (CVID)Hyper-IgM syndrome
PubMedDOIMetascience Observatory

About CD40LG

The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008]

View all CD40LG variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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