rs140068450

This is a intron variant variant in the PAX7 gene.

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GWAS Catalog Trait Associations (1)

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

abdominal fat cell number

Kulyté A et al. “Genome-Wide Association Study Identifies Genetic Loci Associated With Fat Cell Number and Overlap With Genetic Risk Loci for Type 2 Diabetes.” Diabetes 71(6):1350-1362 (2022)

Allele A

OR 0.20

p 6.0e-9

N 896

Small GWAS

About PAX7

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 specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

View all PAX7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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