rs111446081
This is a regulatory region variant variant in the EIF2AK1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
platelet count
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.15
p 5.0e-33
N 114,580
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
platelet volume
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.14
p 6.0e-21
N 97,007
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
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]
View all EIF2AK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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