rs3918019

This is a variant in the CSF3R gene that changes a glutamate to an lysine.

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GWAS Catalog Trait Associations (1)

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

granulocyte colony-stimulating factor receptor level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.66
p 8.0e-50
N 47,745
Large GWAS
European
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ClinVar annotation

Likely Benign★☆☆☆
4 submitters2 publications

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; not specified

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About CSF3R

The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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