rs17101923

This is a regulatory region variant variant in the HMGA2 gene.

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GWAS Catalog Trait Associations (3)

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

number of teeth

Grgic O et al. “Novel Genetic Determinants of Dental Maturation in Children.” Journal of Dental Research 102(3):349-356 (2023)
Allele T
OR 6.60
p 3.0e-11
N 14,805
Large GWAS
European, NR

tooth eruption

Fatemifar G et al. “Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.” Human Molecular Genetics 22(18):3807-17 (2013)
Allele G
OR 0.21
p 6.0e-11
N 11,118
Large GWAS
European

odontogenesis

Fatemifar G et al. “Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.” Human Molecular Genetics 22(18):3807-17 (2013)
Allele G
OR 0.18
p 1.0e-10
N 11,513
Large GWAS
European

About HMGA2

This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

View all HMGA2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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