rs41300435

This variant is located in the TFRC gene.

GWAS Catalog Trait Associations (7)

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

Red cell distribution width

Allele G
OR 0.07
p 4.0e-220
N 531,774
Large GWAS
European
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.05
p 4.0e-35
N 408,112
Large GWAS
European
Allele G
OR 0.06
p 2.0e-175
N 394,642
Large GWAS
European

erythrocyte count

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 G
OR 0.05
p 1.0e-73
N 405,366
Major Consortium StudyLarge GWAS
European

reticulocyte count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 2.0e-25
N 408,112
Large GWAS
European

glucose measurement

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 G
OR 0.03
p 3.0e-18
N 419,671
Major Consortium StudyLarge GWAS
European

type 2 diabetes mellitus

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 G
OR 0.03
p 7.0e-14
N 432,648
Major Consortium StudyLarge GWAS
European

diabetes mellitus

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 G
OR 0.03
p 1.0e-13
N 431,305
Major Consortium StudyLarge GWAS
European

reticulocyte amount

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 2.0e-18
N 408,112
Large GWAS
European

ClinVar annotation

Benign★★★
3 submitters1 publication

not provided; 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]

View all TFRC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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