rs9457

This variant is located in the WFS1 gene.

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GWAS Catalog Trait Associations (3)

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

diabetic eye disease

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 0.08
p 1.0e-24
N 609,979
Major Consortium StudyLarge GWAS
multi-ancestry

diabetic retinopathy

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 0.08
p 2.0e-24
N 611,288
Major Consortium StudyLarge GWAS
multi-ancestry

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 0.09
p 2.0e-12
N 619,297
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

WFS1-Related Spectrum Disorders; Autosomal dominant nonsyndromic hearing loss 6; not provided; Lung cancer; Cervical cancer

View on ClinVar →
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Research that mentions this SNP (1)

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Multicapillary gel electrophoresis based analysis of genetic variants in the WFS1 gene
AssociationN=996Zsuzsanna Elek et al.(2016)· ELECTROPHORESIS

This association study investigated three WFS1 promoter polymorphisms (rs4689388, rs148797429, rs4273545) in relation to type 2 diabetes mellitus using a case-control design with 996 Hungarian subjects. All three polymorphisms showed statistically significant association with T2DM in both allele-wise and genotype-wise analyses (p < 0.0001 after Bonferroni correction), with odds ratios of 1.45-1.47. Functional studies using luciferase reporter assays demonstrated that rs4273545 T allele resulted in ~2.5-fold increased promoter activity, with effect dependent on the rs148797429 region context.

Traits studied:Type 2 diabetes mellitus
PubMedDOIMetascience Observatory

About WFS1

This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

View all WFS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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