rs4602861

This is a intron variant variant in the ZFPM2 gene.

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GWAS Catalog Trait Associations (7)

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

cystatin-F measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.17
p 1.0e-29
N 10,708
Large 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 —
p 4.0e-13
N 737,823
Large GWAS
multi-ancestry

endoplasmic reticulum resident protein 44 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.10
p 7.0e-13
N 10,708
Large GWAS
European

level of CCN family member 2 in blood

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 0.04
p 1.0e-11
N 47,745
Large GWAS
European

hemoglobin measurement

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 4.0e-11
N 746,431
Large GWAS
multi-ancestry

CD40 ligand measurement

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele A
OR —
β 0.070
p 3.0e-10
N 21,758
Large GWAS
European

venous thromboembolism

Klarin D et al. “Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor.” Circulation. Cardiovascular Genetics 10(2) (2017)
Allele A
OR 1.11
p 5.0e-10
N 120,158
Major Consortium StudyLarge GWAS
European

About ZFPM2

The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]

View all ZFPM2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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