rs1279683

This is a intron variant variant in the SLC23A2 gene.

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GWAS Catalog Trait Associations (5)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.01
p 3.0e-26
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

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 A
OR 0.02
p 1.0e-17
N 408,112
Large GWAS
European

Red cell distribution width

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele G
OR 0.01
p 1.0e-12
N 531,774
Large GWAS
European

erythrocyte volume

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR 0.02
p 3.0e-22
N 544,127
Large GWAS
European
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 0.02
p 2.0e-18
N 480,305
Large GWAS
multi-ancestry
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 8.0e-18
N 394,642
Large GWAS
European
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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
PubMedDOIMetascience Observatory

About SLC23A2

The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008]

View all SLC23A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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