rs11526468

This is a variant in the SEMA4D gene that changes a alanine to an threonine.

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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

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 0.02
p 8.0e-20
N 394,642
Large GWAS
European

reticulocyte count

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 0.02
p 8.0e-18
N 394,642
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.02
p 7.0e-10
N 170,761
Large GWAS
European

erythrocyte volume

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 0.01
p 3.0e-12
N 394,642
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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