rs11057401
This is a protein-altering variant in the CCDC92 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
coronary artery disease
Klarin D et al. “Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease.” Nature Genetics 49(9):1392-1397 (2017)
Allele T
OR 1.06
p 4.0e-9
N 120,286
Major Consortium StudyLarge GWAS
multi-ancestry
van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele T
OR 0.04
p 2.0e-8
N 250,736
Large GWAS
BMI-adjusted waist-hip ratio
Emdin CA et al. “DNA Sequence Variation in ACVR1C Encoding the Activin Receptor-Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes.” Diabetes 68(1):226-234 (2019)
Allele T
OR 0.04
p 2.0e-50
N 405,569
Large GWAS
European
Justice AE et al. “Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.” Nature Genetics 51(3):452-469 (2019)
Allele T
OR 0.03
p 7.0e-37
N 344,369
Large GWAS
multi-ancestry
About CCDC92
Enables identical protein binding activity. Predicted to be involved in innate immune response and regulation of defense response to virus. Located in centriole; centrosome; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all CCDC92 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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