rs11689193

This is a downstream gene variant variant in the ERFE gene.

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GWAS Catalog Trait Associations (1)

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

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)

Allele C

OR —

β 0.013

p 3.0e-9

N 684,122

Large GWAS

European

About ERFE

Enables molecular sequestering activity. Involved in negative regulation of BMP signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

View all ERFE variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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