rs419059

This variant is located in the TFRC gene.

▶

GWAS Catalog Trait Associations (2)

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

erythrocyte volume

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 0.06

p 6.0e-73

N 583,880

Major Consortium StudyLarge GWAS

multi-ancestry

mean corpuscular hemoglobin concentration

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 0.04

p 5.0e-14

N 114,852

Major Consortium StudyLarge GWAS

African American or Afro-Caribbean

▶

ClinVar annotation

Benign★★★☆

6 submitters2 publications

not provided; TFRC-related combined immunodeficiency; not specified

View on ClinVar →

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]