rs62483572

This variant is located in the EPO gene.

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GWAS Catalog Trait Associations (7)

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

hematocrit

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.30
p 1.0e-89
N 408,112
Large GWAS
European
Auer PL et al. “Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.” Nature Genetics 46(6):629-34 (2014)
Allele A
OR 1.08
p 6.0e-9
N 24,814
Large GWAS
European

hemoglobin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.21
p 1.0e-83
N 394,642
Large GWAS
European
Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele A
OR 0.26
p 2.0e-73
N 684,122
Large GWAS
European
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 A
OR 0.24
p 2.0e-31
N 584,680
Major Consortium StudyLarge GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.29
p 1.0e-78
N 408,112
Large GWAS
European
Auer PL et al. “Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.” Nature Genetics 46(6):629-34 (2014)
Allele A
OR 0.35
p 3.0e-8
N 24,814
Large GWAS
European

high density lipoprotein cholesterol measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.20
p 3.0e-81
N 394,642
Large GWAS
European

erythrocyte count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.19
p 1.0e-63
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.24
p 3.0e-55
N 408,112
Large GWAS
European

erythropoietin level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.36
p 7.0e-21
N 47,745
Large GWAS
European

bilirubin measurement

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 A
OR 0.13
p 6.0e-14
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.09
p 3.0e-8
N 467,170
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.08
p 9.0e-14
N 394,642
Large GWAS
European

platelet crit

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.09
p 5.0e-9
N 408,112
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
4 submitters2 publications

not provided; EPO-related disorder

View on ClinVar →

About EPO

This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of cancer therapies. [provided by RefSeq, Aug 2017]

View all EPO variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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