rs2520096

GWAS Catalog Trait Associations (14)

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

reticulocyte amount

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.03
p 5.0e-28
N 408,112
Large GWAS
European
Allele G
OR 0.02
p 2.0e-23
N 394,642
Large GWAS
European

reticulocyte count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.03
p 5.0e-24
N 408,112
Large GWAS
European
Allele G
OR 0.02
p 4.0e-18
N 394,642
Large GWAS
European

HDL cholesterol change measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 8.0e-14
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters in HDL measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 1.0e-13
N 450,015
Large GWAS
multi-ancestry

total lipids in HDL measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 1.0e-13
N 450,015
Large GWAS
multi-ancestry

free cholesterol in HDL measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 5.0e-13
N 450,015
Large GWAS
multi-ancestry

phospholipids in HDL measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 7.0e-13
N 450,015
Large GWAS
multi-ancestry

free cholesterol in medium HDL measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 8.0e-13
N 450,015
Large GWAS
multi-ancestry

promotilin measurement

Allele G
OR 0.03
p 3.0e-12
N 47,745
Large GWAS
European

cholesterol in medium HDL measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 7.0e-12
N 450,015
Large GWAS
multi-ancestry

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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