rs2041671
This variant is located in the CC2D2A 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.
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 T
OR —
β 0.069
p 2.0e-10
N 22,172
Large GWAS
European
neuroimaging measurement
Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele C
OR 0.07
p 3.0e-10
N 21,090
Major Consortium StudyLarge GWAS
European
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout 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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