rs6120849

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

Tang W et al. “Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.” Blood 116(23):5032-6 (2010)
Allele T
OR 0.14
p 7.0e-37
N 8,048
CohortLarge GWAS
European
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Research that mentions this SNP (1)

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Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study
AssociationN=2,701Munir MS et al.(2014)· Genetic Epidemiology

Genome-wide association study of plasma protein C levels in 2,701 African Americans from the ARIC study identified 79 genome-wide significant SNPs in two regions (2q14 and 20q11). The top signal was rs867186 (missense, S219G in PROCR; p=9.84×10⁻⁶⁵, β=0.49 µg/ml, 10% variance explained). Additional significant hits were rs7580658 and rs1799808 near the PROC gene, and novel associations with CYP27C1 and MYO7B were discovered.

Traits studied:Anticoagulant levelsPlasma protein C level
PubMedDOIMetascience Observatory

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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