rs10758593

This is a intron variant variant in the GLIS3 gene.

GWAS Catalog Trait Associations (9)

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

glucose tolerance test

Allele A
OR 0.07
p 6.0e-23
N 85,856
Large GWAS
East Asian

gestational diabetes

Allele A
OR 0.18
p 1.0e-16
N 79,869
Large GWAS
East Asian
Allele A
OR 0.92
p 8.0e-10
N 300,553
Large GWAS
European

thyroglobulin measurement

Allele A
OR 0.04
p 6.0e-15
N 47,745
Large GWAS
European

glutamine measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 8.0e-15
N 131,686
Large GWAS
multi-ancestry

facial morphology trait

White JD et al. Insights into the genetic architecture of the human face. Nature Genetics 53(1):45-53 (2021)
Allele A
OR
p 6.0e-14
N 3,566
Large GWAS
European

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 0.02
p 8.0e-12
N 492,335
Major Consortium StudyLarge GWAS
multi-ancestry

blood glucose amount

Allele A
OR 0.06
p 5.0e-10
N 38,000
Large GWAS
South Asian

insomnia measurement

Allele G
OR 1.04
p 5.0e-9
N 1,331,010
Large 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 0.02
p 1.0e-16
N 601,111
Major Consortium StudyLarge GWAS
multi-ancestry

About GLIS3

This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]

View all GLIS3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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