rs710218

This is a regulatory region variant variant in the SLC2A1-DT gene.

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GWAS Catalog Trait Associations (4)

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

mean reticulocyte volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.05
p 3.0e-60
N 408,112
Large GWAS
European

mean corpuscular hemoglobin concentration

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 4.0e-28
N 408,112
Large 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 0.02
p 1.0e-11
N 408,112
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 A
OR 0.02
p 4.0e-11
N 408,112
Large GWAS
European
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Research that mentions this SNP (2)

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AKT1 polymorphisms and survival of early stage non‐small cell lung cancer
AssociationN=100Min Jung Kim et al.(2012)· Journal of Surgical Oncology

This study examined associations between SNPs in glucose metabolism genes (SLC2A1, SLC2A1-AS1, and AKT) and HIV disease progression. The SLC2A1 SNP rs1385129 GG genotype was associated with a 4.67-fold increased risk of poor CD4+ T cell recovery in antiretroviral-treated individuals (P=0.04). High CD4+ Glut1+ T cell percentages were linked to rapid CD4+ T cell decline in untreated HIV and poor recovery on cART, with elevated CD4+ Glut1+ T cells associated with exhausted and senescent CD4+ T cell phenotypes.

Traits studied:CD4+ Glut1+ T cell percentageCD4+ T cell recoveryHIV disease progressionImmunological response to antiretroviral therapy
PubMedDOIMetascience Observatory
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Association of glucose transporter 1 polymorphisms with type 2 diabetes in the Tunisian population
AssociationN=616Makni K. et al.(2008)· Diabetes/Metabolism Research and Reviews

Case-control study of 273 T2DM patients and 343 controls in the Tunisian population examined three GLUT1 SNPs (rs710218, rs841847, rs841853). The XbaI SNP (rs841853) GT genotype conferred increased T2DM risk (OR=2.4), and the TAT haplotype combining all three SNPs showed the strongest association with T2DM susceptibility (OR=3.4).

Traits studied:Type 2 diabetes mellitus
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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