rs10784502

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

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GWAS Catalog Trait Associations (7)

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

grip strength measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.01
p 8.0e-16
N 394,642
Large GWAS
European

pulse pressure measurement

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele C
OR 0.19
p 1.0e-13
N 321,262
Large GWAS
multi-ancestry

atrial fibrillation

Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele T
OR 0.02
p 1.0e-12
N 2,584,013
Large GWAS
multi-ancestry

intracranial volume measurement

Stein JL et al. “Identification of common variants associated with human hippocampal and intracranial volumes.” Nature Genetics 44(5):552-61 (2012)
Allele C
OR 9006.71
p 1.0e-12
N 7,795
Large GWAS
multi-ancestry

appendicular lean mass

Hernandez Cordero AI et al. “Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2.” American Journal of Human Genetics 105(6):1222-1236 (2019)
Allele T
OR 0.07
p 7.0e-12
N 85,750
Large GWAS
European

systolic blood pressure

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele C
OR 0.23
p 7.0e-10
N 321,262
Large GWAS
multi-ancestry

open-angle glaucoma

Han X et al. “Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.” Nature Genetics 55(7):1116-1125 (2023)
Allele T
OR 0.05
p 1.0e-8
N 432,017
Large GWAS
multi-ancestry

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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