rs2526389

This is a regulatory region variant variant in the SEMA3F gene.

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GWAS Catalog Trait Associations (3)

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

Abnormality of the skeletal system

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 1.0e-40
N 394,642
Large GWAS
European

body mass index

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele T
OR 0.03
p 4.0e-36
N 342,566
Large GWAS
European

taste liking measurement

May-Wilson S et al. “Large-scale GWAS of food liking reveals genetic determinants and genetic correlations with distinct neurophysiological traits.” Nature Communications 13(1):2743 (2022)
Allele T
OR 0.06
p 6.0e-10
N 156,740
Large GWAS
European

About SEMA3F

This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

View all SEMA3F variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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