rs33972313

This is a protein-altering variant in the SLC23A1 gene.

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GWAS Catalog Trait Associations (7)

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

oxalate measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.29
p 2.0e-26
N 14,296
Large GWAS
European

threonate measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.28
p 5.0e-24
N 14,296
Large GWAS
European

glycerate measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.25
p 5.0e-20
N 14,296
Large GWAS
European

ascorbic acid 3-sulfate measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.43
p 5.0e-14
N 6,136
Large GWAS
European

serum creatinine amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.04
p 1.0e-9
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry

glomerular filtration rate

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.04
p 3.0e-9
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry
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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 SLC23A1

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 transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

View all SLC23A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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