rs5400

This is a variant in the SLC2A2 gene that changes a threonine to an isoleucine.

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GWAS Catalog Trait Associations (3)

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

blood glucose amount

Willems SM et al. “Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.” Wellcome Open Research 8:483 (2023)

Allele A

OR 0.02

p 2.0e-17

N 129,665

Large GWAS

multi-ancestry

HbA1c measurement

Willems SM et al. “Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.” Wellcome Open Research 8:483 (2023)

Allele A

OR 0.01

p 2.0e-13

N 144,060

Large GWAS

multi-ancestry

diabetic ketoacidosis

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 0.37

p 1.0e-14

N 121,082

Major Consortium StudyLarge GWAS

African American or Afro-Caribbean

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ClinVar annotation

Benign★★★☆

8 submitters2 publications

Fanconi-Bickel syndrome (FBS); not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Plasma ascorbic acid and the risk of islet autoimmunity and type 1 diabetes: the TEDDY study

AssociationN=1,324Markus Mattila et al.(2020)· Diabetologia

Nested case-control study in the TEDDY cohort examining plasma ascorbic acid and type 1 diabetes autoimmunity. Childhood plasma ascorbic acid was inversely associated with islet autoimmunity risk (OR 0.96 per 1 mg/l, p=0.041), particularly insulin autoantibodies (OR 0.94), but not type 1 diabetes (OR 0.93). SLC2A2 rs5400 was associated with increased type 1 diabetes risk (OR 1.77, p=0.015).

Traits studied:Insulin autoantibodiesIslet autoimmunityType 1 diabetes

PubMed DOI Metascience Observatory

About SLC2A2

This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]