rs36206512

This is a upstream gene variant variant 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.

lymphocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele C

OR 0.03

p 1.0e-11

N 408,112

Large GWAS

European

platelet crit

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele C

OR 0.03

p 5.0e-10

N 408,112

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

4 submitters2 publications

Hyper-IgM syndrome type 1; not specified

View on ClinVar →

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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