rs9273368

This is a regulatory region variant variant in the HLA-DQB1-AS1 gene.

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GWAS Catalog Trait Associations (10)

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

type 1 diabetes nephropathy

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 0.79
p 4.0e-78
N 571,805
Major Consortium StudyLarge GWAS
multi-ancestry

Drugs used in diabetes use measurement

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 0.12
p 2.0e-49
N 484,639
Large GWAS
multi-ancestry

type 2 diabetes mellitus

Mansour Aly D et al. “Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes.” Nature Genetics 53(11):1534-1542 (2021)
Allele A
OR 2.68
p 7.0e-40
N 3,196
Large GWAS
European

insulin measurement

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 0.19
p 2.0e-39
N 619,297
Major Consortium StudyLarge GWAS
multi-ancestry

Hypoglycemia

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 0.25
p 2.0e-37
N 618,666
Major Consortium StudyLarge GWAS
multi-ancestry

level of complement C1q subcomponent subunit A in blood

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 0.05
p 2.0e-18
N 47,745
Large GWAS
European

diabetes mellitus, family history

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 0.07
p 6.0e-17
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

type 1 diabetes mellitus

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 0.47
p 2.0e-69
N 447,568
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (1)

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Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): Association between a promoter polymorphism and type 1 diabetes in Asian populations
ReviewEiji Kawasaki et al.(2006)· American Journal of Medical Genetics Part A

This review examines slowly progressive type 1 diabetes mellitus (SPIDDM), also known as latent autoimmune diabetes in adults (LADA), discussing its pathogenesis, diagnostic markers, and genetic associations. Key findings include T-cell-mediated insulitis and pseudoatrophic islets characteristic of type 1 diabetes, absence of amyloid deposition seen in type 2 diabetes, and identification of multiple genetic susceptibility loci including HLA haplotypes, PTPN22 rs2476601, INS rs689, CTLA4, TCF7L2 rs7903146, ZMIZ1 rs12571751, SH2B3 rs7310615, and PFKFB3 rs1983890. GAD autoantibodies and HLA genotypes are important risk factors for beta-cell failure progression.

Traits studied:Acute-onset type 1 diabetesFulminant type 1 diabetesLatent autoimmune diabetes in adultsSlowly progressive type 1 diabetes mellitusType 1 diabetesType 2 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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