rs2551802

This is a regulatory region variant variant in the HOXD3 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 0.01
p 8.0e-16
N 928,679
Large GWAS
multi-ancestry

motion sickness

Hromatka BS et al. “Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.” Human Molecular Genetics 24(9):2700-8 (2015)
Allele G
OR 0.04
p 2.0e-12
N 80,494
Large GWAS
European

About HOXD3

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in the regulation of cell adhesion processes. [provided by RefSeq, Jul 2008]

View all HOXD3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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