rs1475417

This is a regulatory region variant variant in the OPHN1 gene.

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GWAS Catalog Trait Associations (1)

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

balding measurement

Yap CX et al. “Dissection of genetic variation and evidence for pleiotropy in male pattern baldness.” Nature Communications 9(1):5407 (2018)

Allele A

OR 0.10

p 4.0e-178

N 205,327

Large GWAS

European

About OPHN1

This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]

View all OPHN1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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