rs1049137

This variant is located in the PAX8 gene.

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GWAS Catalog Trait Associations (3)

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

urate measurement

Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele A
OR 0.02
p 5.0e-12
N 677,373
Meta-analysisLarge GWAS
European

Cervicitis

Pujol Gualdo N et al. “Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.” Nature Medicine 31(5):1626-1634 (2025)
Allele A
OR 1.08
p 4.0e-11
N 285,050
Large GWAS
European
Koel M et al. “GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer.” Human Molecular Genetics 32(12):2103-2116 (2023)
Allele A
OR 0.92
p 4.0e-10
N 204,993
Large GWAS
European

dysplasia of cervix

Koel M et al. “GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer.” Human Molecular Genetics 32(12):2103-2116 (2023)
Allele G
OR 0.92
p 6.0e-9
N 165,257
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication

not provided; Hypothyroidism, congenital, nongoitrous, 2

View on ClinVar →

About PAX8

This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]

View all PAX8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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