rs1150781

This is a protein-altering variant in the HMGA1 gene.

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GWAS Catalog Trait Associations (2)

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

body height

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele C
OR 0.08
p —
N 928,679
Large GWAS
multi-ancestry
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.09
p 4.0e-129
N 607,511
Major Consortium StudyLarge GWAS
multi-ancestry
Graff M et al. “Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.” American Journal of Human Genetics 108(4):564-582 (2021)
Allele C
OR 0.05
p 2.0e-13
N 41,389
Large GWAS
multi-ancestry
N'Diaye A et al. “Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.” Plos Genetics 7(10):e1002298 (2011)
Allele C
OR 0.05
p 2.0e-8
N 20,427
Large GWAS
multi-ancestry

body weight

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 3.0e-20
N 119,284
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

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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