rs4877080

This variant is located in the SEMA4D gene.

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GWAS Catalog Trait Associations (3)

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

reticulocyte amount

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 2.0e-14
N 408,112
Large GWAS
European

reticulocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 1.0e-12
N 408,112
Large GWAS
European

otosclerosis

Rämö JT et al. “Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.” Nature Communications 14(1):157 (2023)
Allele A
OR 0.83
p 4.0e-9
N 864,702
Large GWAS
European

About SEMA4D

Enables identical protein binding activity; semaphorin receptor binding activity; and transmembrane signaling receptor activity. Involved in several processes, including positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; regulation of neuron projection development; and regulation of primary metabolic process. Located in microtubule organizing center; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all SEMA4D variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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