rs11684404

This is a upstream gene variant variant in the EIF2AK3 gene.

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GWAS Catalog Trait Associations (2)

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

body height

Wood AR et al. “Defining the role of common variation in the genomic and biological architecture of adult human height.” Nature Genetics 46(11):1173-86 (2014)
Allele T
OR 0.03
p 9.0e-25
N 253,288
Large GWAS
European
Lango Allen H et al. “Hundreds of variants clustered in genomic loci and biological pathways affect human height.” Nature 467(7317):832-8 (2010)
Allele T
OR —
β 0.028
p 1.0e-13
N 133,653
Large GWAS
European
Chiou JS et al. “Your height affects your health: genetic determinants and health-related outcomes in Taiwan.” Bmc Medicine 20(1):250 (2022)
Allele T
OR 0.03
p 8.0e-12
N 67,452
Large GWAS
East Asian

brain stem volume

Satizabal CL et al. “Genetic architecture of subcortical brain structures in 38,851 individuals.” Nature Genetics 51(11):1624-1636 (2019)
Allele T
OR 5.87
p 4.0e-9
N 28,809
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density
AssociationN=1,884Jie Liu et al.(2012)· Journal of Bone and Mineral Research

This association study identified a functional haplotype in EIF2AK3, an ER stress sensor gene, associated with lower bone mineral density (BMD). The nonsynonymous SNP rs13045 (R166Q) showed association with decreased forearm BMD in both Amish (β = -0.007, P = 0.036) and Mexican American (β = -0.008, P = 0.031) cohorts, achieving statistical significance in meta-analysis (P = 0.003). Functional studies demonstrated that haplotype B containing rs13045 and related SNPs increased sensitivity to ER stress in lymphoblastoid cells (P = 0.014).

Traits studied:Bone mineral densityOsteoporosis
PubMedDOIMetascience Observatory

About EIF2AK3

The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]

View all EIF2AK3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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