rs7058592

This variant is located in the PCDH11X gene.

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GWAS Catalog Trait Associations (1)

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

HETE measurement

Moore A et al. “Genome-wide metabolite quantitative trait loci analysis (mQTL) in red blood cells from volunteer blood donors.” The Journal of Biological Chemistry 298(12):102706 (2022)
Allele T
OR 1.32
p 1.0e-9
N 243
Small GWAS

About PCDH11X

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

View all PCDH11X variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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