rs6120844
This is a intron variant variant in the EDEM2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
amygdala volume
Mufford MS et al. “The Genetic Architecture of Amygdala Nuclei.” Biological Psychiatry 95(1):72-84 (2024)
Allele T
OR 0.40
p 1.0e-9
N 31,690
Large GWAS
European
About EDEM2
In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008]
View all EDEM2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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