rs12126231
This is a intron variant variant in the EDEM3 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.
educational attainment
Okbay A et al. “Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals.” Nature Genetics 54(4):437-449 (2022)
Allele A
OR 0.01
p 1.0e-27
N 3,037,499
Large GWAS
European
self reported educational attainment
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 0.01
p 5.0e-12
N 1,311,438
Large GWAS
European
mathematical ability
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 0.01
p 3.0e-8
N 811,539
Large GWAS
European
About EDEM3
Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]
View all EDEM3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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