rs7684446

This variant is located in the CC2D2A gene.

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GWAS Catalog Trait Associations (2)

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

erythrocyte 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 0.02

p 3.0e-9

N 172,952

Large GWAS

European

brain physiology trait

Lee S et al. “Amplitudes of resting-state functional networks - investigation into their correlates and biophysical properties.” Neuroimage 265:119779 (2023)

Allele C

OR —

β 0.055

p 3.0e-8

N 22,172

Large GWAS

European

About CC2D2A

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

View all CC2D2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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