rs45464494

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.

semaphorin-4D measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 1.49
p —
N 10,708
Large GWAS
European

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele C
OR 1.28
p 2.0e-187
N 3,200
Large GWAS
European
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ClinVar annotation

Benign
1 submitter

SEMA4D-related disorder

View on ClinVar →

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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