rs4728302

This is a regulatory region variant variant in the EXOC4 gene.

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GWAS Catalog Trait Associations (2)

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

intelligence

Hill WD et al. “A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.” Molecular Psychiatry 24(2):169-181 (2019)
Allele T
OR 0.02
p 8.0e-16
N 248,482
Large GWAS
European
Coleman JRI et al. “Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.” Molecular Psychiatry 24(2):182-197 (2019)
Allele T
OR 5.66
p 1.0e-8
N 87,740
Meta-analysisLarge GWAS
European
Sniekers S et al. “Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence.” Nature Genetics 49(7):1107-1112 (2017)
Allele T
OR 5.97
p 2.0e-9
N 78,308
Meta-analysisLarge GWAS
European

cognitive domain measurement

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele C
OR 0.02
p 7.0e-10
N 168,864
Large GWAS
European

About EXOC4

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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