rs797680

This is a intron variant variant in the CCDC18 gene.

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GWAS Catalog Trait Associations (2)

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

basophil count, eosinophil count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele T

OR 0.03

p 8.0e-12

N 171,771

Large GWAS

European

eosinophil percentage of leukocytes

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele T

OR 0.02

p 3.0e-11

N 172,378

Large GWAS

European

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Research that mentions this SNP (1)

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Identification of common genetic variants that account for transcript isoform variation between human populations

AssociationN=176Zhang W. et al.(2009)· Human Genetics

This study identified 782 differentially spliced probesets between European (CEU) and African (YRI) HapMap populations using exon arrays on 176 lymphoblastoid cell lines. Genome-wide association analysis found that 2,393 local and 419 distant SNPs were significantly associated with alternative splicing patterns (P < 3.18 × 10⁻⁸ after Bonferroni correction), suggesting common genetic variants substantially account for population differences in transcript isoform variation.

Traits studied:Alternative splicing patternsGene expressionTranscript isoform variation

PubMed DOI Metascience Observatory

About CCDC18

Located in centriolar satellite. [provided by Alliance of Genome Resources, Jul 2025]