rs2269423

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GWAS Catalog Trait Associations (5)

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

fatty acid amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 7.0e-24
N 136,016
Large GWAS
multi-ancestry
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele A
OR —
p 2.0e-13
N 239,268
Large GWAS
European

1,2-dipalmitoyl-GPC (16:0/16:0) 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 C
OR 0.15
p 9.0e-14
N 6,136
Large GWAS
European

1-palmitoyl-2-oleoyl-GPC (16:0/18:1) 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 A
OR 0.07
p 4.0e-13
N 14,296
Large GWAS
European
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Research that mentions this SNP (1)

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Receptor for advanced glycation end-products (RAGE) provides a link between genetic susceptibility and environmental factors in type 1 diabetes
AssociationN=3,624Forbes JM et al.(2011)· Diabetologia

This study examined genetic susceptibility conferred by AGER gene polymorphisms in type 1 diabetes using 3,624 Finnish individuals. Three SNPs (rs2070600 OR=1.452, rs17493811 OR=1.518, rs9469089 OR=0.423) were associated with type 1 diabetes on a high-risk HLA background. Declining circulating soluble RAGE levels at autoantibody seroconversion predicted disease progression in children, and AGE-lowering therapy (alagebrium chloride) reduced autoimmune diabetes incidence by 80% in NOD mice while restoring RAGE levels.

Traits studied:Type 1 diabetes
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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