rs140488081
This is a intron variant variant in the OPHN1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
alopecia
Hagenaars SP et al. “Genetic prediction of male pattern baldness.” Plos Genetics 13(2):e1006594 (2017)
Allele T
OR 0.40
p 5.0e-61
N 52,874
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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