rs17493811

This is a regulatory region variant variant in the RNF5 gene.

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GWAS Catalog Trait Associations (1)

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

atrial fibrillation

Roselli C et al. “Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.” Nature Genetics 57(3):539-547 (2025)
Allele C
OR 1.10
p 9.0e-10
N 1,650,345
Meta-analysisLarge GWAS
multi-ancestry
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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

About RNF5

The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [provided by RefSeq, Jul 2008]

View all RNF5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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