rs7385804

This is a downstream gene variant variant in the TFR2 gene.

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GWAS Catalog Trait Associations (19)

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

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 A

OR 0.06

p 4.0e-182

N 480,305

Large GWAS

multi-ancestry

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 A

OR 0.07

p 9.0e-85

N 172,433

Large GWAS

European

Hu Y et al. “Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.” American Journal of Human Genetics 108(5):874-893 (2021)

Allele A

OR 0.37

p 4.0e-23

N 48,830

Large GWAS

multi-ancestry

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)

Allele A

OR 0.05

p 3.0e-12

N 38,000

Large GWAS

South Asian

mean corpuscular hemoglobin

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 A

OR 0.08

p 3.0e-116

N 172,332

Large GWAS

European

Hu Y et al. “Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.” American Journal of Human Genetics 108(5):874-893 (2021)

Allele A

OR 0.17

p 2.0e-27

N 46,241

Large GWAS

multi-ancestry

erythrocyte count

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 A

OR 0.07

p 4.0e-90

N 172,952

Large GWAS

European

Hu Y et al. “Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.” American Journal of Human Genetics 108(5):874-893 (2021)

Allele A

OR 0.03

p 2.0e-26

N 44,470

Large GWAS

multi-ancestry

Soranzo N et al. “A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.” Nature Genetics 41(11):1182-90 (2009)

Allele A

OR 0.01

p 5.0e-10

N 4,627

Meta-analysisMajor Consortium Study

European

procollagen C-endopeptidase enhancer 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele A

OR 0.23

p 6.0e-64

N 10,708

Large GWAS

European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele A

OR 0.22

p 4.0e-60

N 10,708

Large GWAS

European

serum iron amount

Bell S et al. “A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.” Communications Biology 4(1):156 (2021)

Allele C

OR 0.06

p 9.0e-43

N 163,511

Meta-analysisLarge 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 C

OR 0.06

p 5.0e-40

N 127,440

Major Consortium StudyLarge GWAS

multi-ancestry

transferrin saturation measurement

Bell S et al. “A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.” Communications Biology 4(1):156 (2021)

Allele C

OR 0.06

p 3.0e-39

N 131,471

Meta-analysisLarge 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 C

OR 0.06

p 5.0e-26

N 81,125

Major Consortium StudyLarge 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 A

OR 0.08

p 6.0e-26

N 38,200

Large GWAS

European

platelet crit

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

Allele A

OR 0.02

p 6.0e-23

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 A

OR 0.02

p 9.0e-15

N 408,112

Large GWAS

European

platelet 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 0.02

p 2.0e-22

N 408,112

Large GWAS

European

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Research that mentions this SNP (1)

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Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans

AssociationN=30,551Ken Sin Lo et al.(2011)· Human Genetics

Genetic association study in 23,439 Caucasians and 7,112 African Americans identified novel loci modulating hematological traits. G6PD rs1050828 (Val68Met) shows strong association with red blood cell count, hemoglobin, hematocrit, and mean corpuscular volume in African Americans (P < 2.0 × 10^−13), while TPM4 rs8109288 associates with platelet count in both Caucasians and African Americans (P = 3.0 × 10^−7). HBA2-HBA1 rs1211375 associates with red blood cell traits specifically in African Americans (P < 7 × 10^−8). Study replicated 36 previously reported associations and highlights ethnic differences in genetic architecture of blood traits.

Traits studied:Basophil countEosinophil countHematocritHemoglobinLymphocyte countMean corpuscular hemoglobinMean corpuscular hemoglobin concentrationMean corpuscular volumeMean platelet volumeMonocyte countNeutrophil countPlatelet countRed blood cell countWhite blood cell count

PubMed DOI Metascience Observatory

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]

rs7385804

GWAS Catalog Trait Associations (19)

erythrocyte volume

mean corpuscular hemoglobin

erythrocyte count

procollagen C-endopeptidase enhancer 1 measurement

protein measurement

serum iron amount

transferrin saturation measurement

hemoglobin measurement

platelet crit

platelet count

Research that mentions this SNP (1)

About TFR2

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