rs419068

This variant is located in the TFRC gene.

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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-78

N 583,955

Major Consortium StudyLarge GWAS

multi-ancestry

amount of iron in brain

Casanova F et al. “MRI-derived brain iron, grey matter volume, and risk of dementia and Parkinson's disease: Observational and genetic analysis in the UK Biobank cohort.” Neurobiology of Disease 197:106539 (2024)

Allele C

OR 0.08

p 3.0e-29

N 39,533

Major Consortium StudyLarge GWAS

European

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ClinVar annotation

Benign★★★☆

5 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]