rs9852239

This is a intron variant variant in the TFRC gene.

GWAS Catalog Trait Associations (3)

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

mean corpuscular hemoglobin

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 0.06
p 1.0e-206
N 478,500
Large GWAS
multi-ancestry

erythrocyte volume

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 0.06
p 1.0e-153
N 480,305
Large GWAS
multi-ancestry

mean corpuscular hemoglobin concentration

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 0.03
p 2.0e-41
N 485,950
Large GWAS
multi-ancestry

About TFRC

This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]

View all TFRC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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