rs4794822

This is a downstream gene variant variant.

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GWAS Catalog Trait Associations (4)

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

neutrophil 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 0.09
p 9.0e-204
N 369,405
Major Consortium StudyLarge 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 C
OR 0.08
p 1.0e-73
N 82,810
Large GWAS
East Asian
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 C
OR 0.09
p 3.0e-76
N 78,744
Large GWAS
East Asian
Keller MF et al. “Trans-ethnic meta-analysis of white blood cell phenotypes.” Human Molecular Genetics 23(25):6944-60 (2014)
Allele C
OR 0.04
p 4.0e-23
N 33,743
Meta-analysisLarge GWAS
multi-ancestry
Okada Y et al. “Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.” Plos Genetics 7(6):e1002067 (2011)
Allele C
OR 0.09
p 4.0e-16
N 8,794
Large GWAS
East Asian
Okada Y et al. “Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count.” Human Molecular Genetics 19(10):2079-85 (2010)
Allele C
OR 0.10
p 6.0e-10
N 5,771
Large GWAS
East Asian

leukocyte quantity

Nalls MA et al. “Multiple loci are associated with white blood cell phenotypes.” Plos Genetics 7(6):e1002113 (2011)
Allele T
OR 0.02
p 9.0e-35
N 19,509
Large GWAS
European
Keller MF et al. “Trans-ethnic meta-analysis of white blood cell phenotypes.” Human Molecular Genetics 23(25):6944-60 (2014)
Allele T
OR 0.03
p 3.0e-23
N 52,740
Meta-analysisLarge GWAS
multi-ancestry
Kowalski MH et al. “Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.” Plos Genetics 15(12):e1008500 (2019)
Allele T
OR —
β 0.064
p 3.0e-9
N 42,539
Major Consortium StudyLarge GWAS
multi-ancestry
Jain D et al. “Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos.” Human Molecular Genetics 26(6):1193-1204 (2017)
Allele T
OR 0.03
p 4.0e-10
N 11,809
Large GWAS
Hispanic or Latin American

neutropenia

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 0.17
p 7.0e-13
N 447,707
Major Consortium StudyLarge GWAS
European

monocyte 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 0.05
p 8.0e-17
N 82,924
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

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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