rs12590961

This variant is located in the CDC42BPB gene.

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GWAS Catalog Trait Associations (1)

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

serum gamma-glutamyl transferase measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele A

OR 0.04

p 4.0e-24

N 355,690

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

not provided; CDC42BPB-related disorder

View on ClinVar →

About CDC42BPB

This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]

View all CDC42BPB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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