rs1801212

This is a variant in the WFS1 gene that changes a valine to an leucine.

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GWAS Catalog Trait Associations (6)

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

HbA1c 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 0.05
p 3.0e-38
N 492,283
Major Consortium StudyLarge GWAS
multi-ancestry

hematocrit

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 0.02
p 5.0e-15
N 407,852
Major Consortium StudyLarge GWAS
European

hemoglobin 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 0.02
p 1.0e-13
N 407,894
Major Consortium StudyLarge GWAS
European

low density lipoprotein cholesterol 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 0.02
p 2.0e-11
N 404,741
Major Consortium StudyLarge GWAS
European

glucose 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 0.04
p 3.0e-31
N 601,111
Major Consortium StudyLarge GWAS
multi-ancestry

type 2 diabetes mellitus

Mahajan A et al. “Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.” Nature Genetics 50(4):559-571 (2018)
Allele A
OR 1.06
p 2.0e-17
N 298,957
Large GWAS
European
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ClinVar annotation

Uncertain Significance★☆☆☆
3 submitters5 publications

Autosomal dominant nonsyndromic hearing loss 6 (LFSNHL); Cataract 41 (CTRCT41); Type 2 diabetes mellitus; Wolfram syndrome 1 (WFS1); Wolfram-like syndrome

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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