rs6120848

This is a intron variant variant in the EDEM2 gene.

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GWAS Catalog Trait Associations (1)

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

protein C measurement

Pankow JS et al. “Identification of Genetic Variants Linking Protein C and Lipoprotein Metabolism: The ARIC Study (Atherosclerosis Risk in Communities).” Arteriosclerosis, Thrombosis, and Vascular Biology 37(3):589-597 (2017)

Allele C

OR —

β 0.080

p 5.0e-17

N 13,484

CohortLarge GWAS

multi-ancestry

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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