rs7776054

This is a intron variant variant.

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GWAS Catalog Trait Associations (24)

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

erythrocyte count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele G

OR 0.19

p —

N 172,952

Large GWAS

European

erythrocyte volume

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele G

OR 0.20

p —

N 172,433

Large GWAS

European

mean corpuscular hemoglobin

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele G

OR 0.22

p —

N 172,332

Large GWAS

European

Ganesh SK et al. “Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.” Nature Genetics 41(11):1191-8 (2009)

Allele G

OR 0.01

p 7.0e-69

N 24,167

Major Consortium StudyLarge GWAS

European

hematocrit

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele G

OR 0.08

p 4.0e-303

N 562,259

Large GWAS

European

platelet-to-lymphocyte ratio

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)

Allele A

OR —

p 1.0e-240

N 234,552

Large GWAS

European

platelet crit

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele G

OR 0.14

p 5.0e-233

N 164,339

Large GWAS

European

platelet count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele G

OR 0.12

p 4.0e-181

N 166,066

Large GWAS

European

Sun P et al. “An Asian-specific MPL genetic variant alters JAK-STAT signaling and influences platelet count in the population.” Human Molecular Genetics 30(9):836-842 (2021)

Allele G

OR 6.10

p 7.0e-10

N 5,257

Large GWAS

East Asian

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 G

OR 0.18

p 1.0e-179

N 47,745

Large GWAS

European

hemoglobin 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 0.04

p 1.0e-176

N 928,679

Large GWAS

multi-ancestry

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 —

β 0.048

p 3.0e-84

N 684,122

Large GWAS

European

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)

Allele A

OR 0.09

p 1.0e-29

N 38,798

Large GWAS

European

myeloid leukocyte count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele G

OR —

p 2.0e-138

N 746,667

Large GWAS

multi-ancestry

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

rs7776054

GWAS Catalog Trait Associations (24)

erythrocyte count

erythrocyte volume

mean corpuscular hemoglobin

hematocrit

platelet-to-lymphocyte ratio

platelet crit

platelet count

erythropoietin level

hemoglobin measurement

myeloid leukocyte count

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