rs2640

This variant is located in the EIF2AK1 gene.

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GWAS Catalog Trait Associations (2)

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

reticulocyte amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.04

p 1.0e-16

N 394,642

Large GWAS

European

neuroimaging measurement

Fu J et al. “Cross-ancestry genome-wide association studies of brain imaging phenotypes.” Nature Genetics 56(6):1110-1120 (2024)

Allele C

OR 0.09

p 3.0e-9

N 7,058

Large GWAS

East Asian

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ClinVar annotation

Benign★☆☆☆

2 submitters1 publication

not provided; Malignant lymphoma, large B-cell, diffuse; Thymoma; Acute myeloid leukemia; Nonpapillary renal cell carcinoma; Adrenocortical carcinoma, hereditary; Familial cancer of breast; Uveal melanoma; Colorectal cancer; Cholangiocarcinoma

View on ClinVar →

About EIF2AK1

The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]