rs191370775

This is a intron variant variant in the STK32B gene.

GWAS Catalog Trait Associations (1)

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

spermatocele

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 2.35
p 2.0e-11
N 572,130
Major Consortium StudyLarge GWAS
multi-ancestry

About STK32B

This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

View all STK32B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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