rs3824004

This variant is located in the PAX4 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

Suzuki K et al. “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” Nature 627(8003):347-357 (2024)
Allele T
OR —
p 4.0e-41
N 2,535,601
Large GWAS
multi-ancestry
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele T
OR 1.19
p 9.0e-13
N 210,865
Large GWAS
East Asian
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ClinVar annotation

Likely Benign★★★☆
7 submitters2 publications

Maturity-onset diabetes of the young; Monogenic diabetes; not provided

View on ClinVar →

About PAX4

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]

View all PAX4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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