rs550628400

This variant is located in the WDR81 gene.

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GWAS Catalog Trait Associations (3)

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

sex hormone-binding globulin measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele G
OR 0.07
p 7.0e-36
N 368,929
Large GWAS
European

testosterone measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele G
OR 0.13
p 9.0e-11
N 194,453
Large GWAS
European

urinary albumin to creatinine ratio

Casanova F et al. “A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin-creatinine ratio.” Human Molecular Genetics 28(24):4197-4207 (2019)
Allele G
OR 0.07
p 2.0e-8
N 437,027
Large GWAS
European

About WDR81

This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

View all WDR81 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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