rs4457053

This variant is located in the ZBED3-AS1 gene.

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GWAS Catalog Trait Associations (1)

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

type 2 diabetes mellitus

Mahajan A et al. “Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.” Nature Genetics 50(11):1505-1513 (2018)
Allele G
OR 1.06
p 8.0e-18
N 898,130
Large GWAS
European
Zhao W et al. “Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.” Nature Genetics 49(10):1450-1457 (2017)
Allele G
OR 0.08
p 9.0e-11
N 183,651
Large GWAS
multi-ancestry
Voight BF et al. “Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.” Nature Genetics 42(7):579-89 (2010)
Allele G
OR 1.08
p 3.0e-12
N 47,117
Large GWAS
European
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Research that mentions this SNP (2)

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A Diabetes-Associated Genetic Variant is Associated with Diastolic Dysfunction and Cardiovascular Disease
AssociationN=15,215John Molvin et al.(2020)· ESC Heart Failure

This association study examined 43 diabetes-related SNPs in relation to diastolic dysfunction and cardiovascular disease across two Swedish cohorts. HNF1B rs757210 (T-allele) was the main finding, associated with prevalent diastolic dysfunction in both the discovery cohort (MPP-RES; OR 1.21, P=0.024) and replication cohort (VARA; OR 1.38, P=0.042), and with increased risk of incident CVD (HR 1.05, P=0.042) but not CHF over 30+ years of follow-up.

Traits studied:Cardiovascular diseaseCongestive heart failureDiastolic dysfunctionType 2 diabetes
PubMedDOIMetascience Observatory
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Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets
AssociationN=84Dayeh TA et al.(2013)· Diabetologia

Of 40 SNPs previously associated with type 2 diabetes, 19 (48%) introduce or remove CpG sites. In 84 human pancreatic islet donors, all 16 analyzed CpG-SNPs showed statistically significant differential DNA methylation (p≤2.3×10⁻⁵). Several CpG-SNPs including rs391300 (SRR), rs5945326 (DUSP9), rs11708067 (ADCY5), rs5015480 (HHEX), rs13266634 (SLC30A8), rs1801214 (WFS1), rs564398 (CDKN2A), and rs2237895 (KCNQ1) were associated with differential gene expression, alternative splicing, or hormone secretion, suggesting DNA methylation-mediated mechanisms linking genetic variants to type 2 diabetes pathogenesis.

Traits studied:Glucagon secretionInsulin contentInsulin secretionType 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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