rs191720756

This is a regulatory region variant variant in the HMGA1 gene.

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GWAS Catalog Trait Associations (3)

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

body height

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.08
p 9.0e-77
N 394,642
Large GWAS
European
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele A
OR 0.09
p 7.0e-57
N 405,540
Large GWAS
European

health trait

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.05
p 5.0e-28
N 405,979
Large GWAS
European

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele A
OR 0.09
p 4.0e-24
N 450,243
Major Consortium StudyLarge GWAS
European

About HMGA1

This gene encodes a chromatin-associated protein involved in the regulation of gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells. The encoded protein preferentially binds to the minor groove of AT-rich regions in double-stranded DNA. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been identified on multiple chromosomes. [provided by RefSeq, Jan 2016]

View all HMGA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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