rs867529

This is a protein-altering variant in the EIF2AK3 gene.

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GWAS Catalog Trait Associations (3)

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

body height

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele C
OR 0.02
p 3.0e-24
N 153,950
Large GWAS
East Asian
He M et al. “Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.” Human Molecular Genetics 24(6):1791-800 (2015)
Allele C
OR 0.04
p 2.0e-14
N 36,227
Meta-analysisLarge GWAS
East Asian

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele C
OR 0.02
p 1.0e-18
N 450,243
Major Consortium StudyLarge GWAS
European

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele C
OR 0.02
p 3.0e-11
N 186,825
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★★★☆
7 submitters2 publications

not specified; Wolcott-Rallison dysplasia; not provided

View on ClinVar →
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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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