rs1049296

This is a variant in the TF gene that changes a proline to an serine.

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GWAS Catalog Trait Associations (4)

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

n-acetylated-alpha-linked acidic dipeptidase 2 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.46
p 5.0e-170
N 10,708
Large GWAS
European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele T
OR 0.47
p 1.0e-80
N 5,360
Large GWAS
European

alcohol drinking

Kutalik Z et al. “Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.” Human Molecular Genetics 20(18):3710-7 (2011)
Allele T
OR 0.29
p 5.0e-43
N 5,181
Large GWAS
European
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ClinVar annotation

Association★★★☆
6 submitters5 publications

Atransferrinemia; TF*C2

View on ClinVar →
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Research that mentions this SNP (1)

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Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease
AssociationN=2,570Kauwe JS et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This study replicates a previous finding of epistatic interaction between rs1049296 (P589S in TF) and rs1800562 (C282Y in HFE) as risk factors for Alzheimer's disease in a combined sample of 1,166 cases and 1,404 controls from three European and European American populations. The study found significant synergy between the two variants (synergy factor=2.71, p=0.0016 unadjusted; OR=2.4, p=0.002 adjusted for age and APOE ε4), with bi-carriers of minor alleles showing approximately 2.4-fold increased disease risk.

Traits studied:Alzheimer's diseaseLate-onset Alzheimer's disease
PubMedDOIMetascience Observatory

About TF

This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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