rs5005507

This is a intron variant variant in the PLXNC1 gene.

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GWAS Catalog Trait Associations (2)

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

plexin-C1 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele G
OR 0.31
p 2.0e-24
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

atopic eczema

Budu-Aggrey A et al. “European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.” Nature Communications 14(1):6172 (2023)
Allele C
OR 1.03
p 3.0e-18
N 864,982
Meta-analysisLarge GWAS
European

About PLXNC1

This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011]

View all PLXNC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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