rs140048432
This is a intron variant variant in the SH3GL2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
neutrophil count
Constantinescu AE et al. “A genome-wide association study of neutrophil count in individuals associated to an African continental ancestry group facilitates studies of malaria pathogenesis.” Human Genomics 18(1):26 (2024)
Allele T
OR 0.33
p 1.0e-8
N 5,976
Large GWAS
African unspecified
About SH3GL2
Enables identical protein binding activity. Involved in negative regulation of blood-brain barrier permeability; negative regulation of gene expression; and negative regulation of signal transduction. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all SH3GL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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