rs479777

This is a regulatory region variant variant in the CCDC88B gene.

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GWAS Catalog Trait Associations (8)

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

basal cell carcinoma

Seviiri M et al. “A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma.” Nature Communications 13(1):7650 (2022)
Allele C
OR —
p 3.0e-39
N 307,684
Large GWAS
European

hypothyroidism

White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)
Allele C
OR 0.03
p 4.0e-20
N 2,444,128
Large GWAS
multi-ancestry
Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele C
OR 0.04
p 1.0e-16
N 1,178,661
Large GWAS
European

psoriasis

Zhang M et al. “Multi-ancestry genome-wide meta-analysis with 472,819 individuals identifies 32 novel risk loci for psoriasis.” Journal of Translational Medicine 23(1):133 (2025)
Allele T
OR 0.08
p 1.0e-12
N 472,819
Meta-analysisLarge GWAS
multi-ancestry

rheumatoid arthritis

Ishigaki K et al. “Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis.” Nature Genetics 54(11):1640-1651 (2022)
Allele C
OR 0.93
p 1.0e-11
N 276,020
Large GWAS
multi-ancestry
Saevarsdottir S et al. “Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset.” Annals of the Rheumatic Diseases 81(8):1085-1095 (2022)
Allele C
OR 0.94
p 1.0e-10
N 1,026,690
Large GWAS
European

skin neoplasm

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.07
p 1.0e-11
N 670,929
Large GWAS
multi-ancestry

Thyroid preparation use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele C
OR 0.06
p 2.0e-9
N 305,582
Major Consortium StudyLarge GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.05
p 4.0e-9
N 484,308
Large GWAS
multi-ancestry

substance-related disorder

Lai D et al. “Genome-wide meta-analyses of cross substance use disorders in diverse populations.” Molecular Psychiatry 31(3):1619-1633 (2026)
Allele T
OR 5.64
p 2.0e-8
N 1,517,369
Large GWAS
multi-ancestry

About CCDC88B

This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]

View all CCDC88B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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