rs7546297
This is a upstream gene variant variant in the PEF1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cognitive function measurement
Lee JJ et al. “Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.” Nature Genetics 50(8):1112-1121 (2018)
Allele A
OR 0.02
p 5.0e-13
N 257,841
Large GWAS
European
cognitive function measurement, self reported educational attainment
Demange PA et al. “Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction.” Nature Genetics 53(1):35-44 (2021)
Allele A
OR 0.05
p 7.0e-13
N 257,700
Large GWAS
European
intelligence
Savage JE et al. “Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.” Nature Genetics 50(7):912-919 (2018)
Allele A
OR 7.09
p 1.0e-12
N 269,867
Meta-analysisLarge GWAS
European
About PEF1
This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]
View all PEF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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