rs10917151

This variant is located in the CDC42 gene.

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GWAS Catalog Trait Associations (2)

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

uterine fibroid

Edwards TL et al. “A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids.” Frontiers in Genetics 10:511 (2019)
Allele A
OR 1.16
p 2.0e-24
N 76,494
Large GWAS
multi-ancestry
Rafnar T et al. “Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.” Nature Communications 9(1):3636 (2018)
Allele A
OR 1.12
p 5.0e-14
N 539,925
Large GWAS
European

endometriosis

Rahmioglu N et al. “The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions.” Nature Genetics 55(3):423-436 (2023)
Allele A
OR 1.23
p 5.0e-11
N 383,935
Large GWAS
European

About CDC42

The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]

View all CDC42 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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