rs13117307

This is a upstream gene variant variant in the EXOC1 gene.

▶

GWAS Catalog Trait Associations (1)

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

cervical carcinoma

Shi Y et al. “A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.” Nature Genetics 45(8):918-22 (2013)
Allele T
OR 1.28
p 3.0e-10
N 4,392
Large GWAS
East Asian
▶

Research that mentions this SNP (1)

▶
Genome‐wide association study of HPV‐associated cervical cancer in Japanese women
AssociationN=412Kiyonori Miura et al.(2014)· Journal of Medical Virology

A genome-wide association study (GWAS) of 226 Japanese women with cervical cancer and 186 controls identified 89 SNPs with p-value < 10^-4, including rs997363 (p=1.23×10^-6, OR=1.99), rs7780883 (p=2.49×10^-6, OR=3.28), and rs6726538 (p=2.76×10^-6, OR=0.52), but no SNPs met genome-wide significance threshold after multiple-testing correction. Two SNPs, rs621310 and rs11653282, showed weak associations in replication analysis. The study suggests that HPV-associated cervical cancer susceptibility in Japanese women may involve multiple genetic variants with small individual effects, or that larger sample sizes are needed to detect true associations.

Traits studied:Cervical cancer susceptibilityHPV persistenceUterine cervical cancer
PubMedDOIMetascience Observatory

About EXOC1

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

View all EXOC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…