rs147834269

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.

type 2 diabetes mellitus

Suzuki K et al. “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” Nature 627(8003):347-357 (2024)
Allele G
OR —
p 4.0e-25
N 2,535,601
Large GWAS
multi-ancestry
Spracklen CN et al. “Identification of type 2 diabetes loci in 433,540 East Asian individuals.” Nature 582(7811):240-245 (2020)
Allele G
OR 1.23
p 9.0e-12
N 433,540
Large GWAS
East Asian
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.24
p 2.0e-21
N 177,415
Large GWAS
East Asian

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 0.20
p 1.0e-13
N 178,726
Large GWAS
East Asian

blood glucose amount

Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele A
OR 0.08
p 6.0e-12
N 288,127
Large GWAS
East Asian
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.09
p 1.0e-21
N 153,950
Large GWAS
East Asian
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ClinVar annotation

Conflicting Classifications
8 submitters10 publications

not provided; not specified; Autosomal dominant nonsyndromic hearing loss 6; WFS1-Related Spectrum Disorders; Wolfram syndrome 1

View on ClinVar →

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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