rs7277632

This is a intron variant variant in the PCBP3 gene.

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GWAS Catalog Trait Associations (2)

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

ganglion thickness

Currant H et al. “Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.” Plos Genetics 17(5):e1009497 (2021)
Allele G
OR 0.34
p 1.0e-10
N 31,434
Major Consortium StudyLarge GWAS
European

retinal layer thickness

Currant H et al. “Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.” Plos Genetics 17(5):e1009497 (2021)
Allele G
OR 0.34
p 1.0e-10
N 31,434
Major Consortium StudyLarge GWAS
European

About PCBP3

This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. The protein encoded by this gene lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]

View all PCBP3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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