rs2075672

This variant is located in the TFR2 gene.

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GWAS Catalog Trait Associations (12)

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

erythrocyte count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.06

p 2.0e-304

N 394,642

Large GWAS

European

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele G

OR 0.05

p 5.0e-252

N 928,679

Large GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.06

p 9.0e-231

N 503,987

Large GWAS

multi-ancestry

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.06

p 9.0e-131

N 408,112

Large GWAS

European

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 0.07

p 8.0e-49

N 114,767

Major Consortium StudyLarge GWAS

African American or Afro-Caribbean

van der Harst P et al. “Seventy-five genetic loci influencing the human red blood cell.” Nature 492(7429):369-75 (2012)

Allele G

OR 0.02

p 2.0e-20

N 71,861

Large GWAS

multi-ancestry

Hodonsky CJ et al. “Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.” Plos Genetics 13(4):e1006760 (2017)

Allele G

OR 0.03

p 1.0e-8

N 12,502

Large GWAS

Hispanic or Latin American

mean corpuscular hemoglobin

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.09

p 9.0e-302

N 408,112

Large GWAS

European

erythrocyte volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.06

p 1.0e-265

N 394,642

Large GWAS

European

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 0.10

p 6.0e-223

N 583,955

Major Consortium StudyLarge GWAS

multi-ancestry

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.08

p 4.0e-232

N 408,112

Large GWAS

European

Red cell distribution width

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.05

p 5.0e-118

N 394,642

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 6.0e-90

N 408,112

Large GWAS

European

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 0.04

p 6.0e-13

N 110,610

Major Consortium StudyLarge GWAS

African American or Afro-Caribbean

platelet count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.02

p 2.0e-38

N 394,642

Large GWAS

European

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele G

OR 0.03

p 2.0e-13

N 166,066

Large 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 G

OR 0.03

p 8.0e-38

N 408,112

Large GWAS

European

erythrocyte attribute

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)

Allele G

OR 0.06

p 6.0e-16

N 30,528

Large GWAS

European

mean reticulocyte volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.02

p 6.0e-15

N 394,642

Large GWAS

European

serum albumin amount

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele G

OR 0.02

p 2.0e-13

N 450,015

Large GWAS

multi-ancestry

hemoglobin measurement

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)

Allele G

OR 0.05

p 3.0e-11

N 38,553

Large GWAS

European

About TFR2

This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]

rs2075672

GWAS Catalog Trait Associations (12)

erythrocyte count

mean corpuscular hemoglobin

erythrocyte volume

Red cell distribution width

platelet count

reticulocyte amount

erythrocyte attribute

mean reticulocyte volume

serum albumin amount

hemoglobin measurement

About TFR2

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