rs143517698

This is a intron variant variant in the CC2D2A gene.

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GWAS Catalog Trait Associations (1)

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

ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.80

p 2.0e-68

N 47,745

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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