rs2955083

This is a intron variant variant in the EEFSEC gene.

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GWAS Catalog Trait Associations (3)

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

Red cell distribution width

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 5.0e-18
N 408,112
Large GWAS
European

chronic obstructive pulmonary disease

Sakornsakolpat P et al. “Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.” Nature Genetics 51(3):494-505 (2019)
Allele A
OR 1.13
p 4.0e-15
N 257,811
Large GWAS
European, East Asian, African American or Afro-Caribbean, Hispanic or Latin American, NR
Kim W et al. “Genome-Wide Gene-by-Smoking Interaction Study of Chronic Obstructive Pulmonary Disease.” American Journal of Epidemiology 190(5):875-885 (2021)
Allele A
OR 0.90
p 7.0e-9
N 200,766
Large GWAS
European
Hobbs BD et al. “Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.” Nature Genetics 49(3):426-432 (2017)
Allele A
OR 1.18
p 4.0e-13
N 58,918
Large GWAS
multi-ancestry

smoking status measurement, chronic obstructive pulmonary disease

Kim W et al. “Genome-Wide Gene-by-Smoking Interaction Study of Chronic Obstructive Pulmonary Disease.” American Journal of Epidemiology 190(5):875-885 (2021)
Allele T
OR —
p 9.0e-9
N 200,766
Large GWAS
European

About EEFSEC

Enables GTPase activity. Involved in selenocysteine incorporation. Predicted to be located in cytoplasm and nucleus. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Jul 2025]

View all EEFSEC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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