rs7801581

This variant is located in the HOXA11 gene.

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GWAS Catalog Trait Associations (8)

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

BMI-adjusted waist-hip ratio

Lotta LA et al. “Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.” Jama 320(24):2553-2563 (2018)
Allele T
OR 0.02
p 7.0e-29
N 660,648
Large GWAS
European
Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)
Allele T
OR —
β 0.028
p 7.0e-12
N 252,375
Large GWAS
European
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele T
OR 0.03
p 4.0e-10
N 143,480
Large GWAS
multi-ancestry

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 T
OR 0.01
p 5.0e-19
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 T
OR 0.01
p 1.0e-10
N 405,540
Large GWAS
European

BMI-adjusted waist circumference

Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele T
OR 0.03
p 8.0e-11
N 143,480
Large GWAS
multi-ancestry
Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele T
OR 0.03
p 2.0e-8
N 160,475
Meta-analysisLarge GWAS
multi-ancestry

hematocrit

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 T
OR 0.01
p 4.0e-9
N 928,679
Large GWAS
multi-ancestry

smoking behavior, BMI-adjusted waist-hip ratio

Justice AE et al. “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.” Nature Communications 8:14977 (2017)
Allele T
OR 0.02
p 8.0e-9
N 191,661
Meta-analysisLarge GWAS
multi-ancestry

waist-hip ratio

Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele T
OR 0.02
p 5.0e-8
N 143,480
Large GWAS
multi-ancestry
Lotta LA et al. “Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.” Jama 320(24):2553-2563 (2018)
Allele T
OR —
p 5.0e-8
N 663,598
Large GWAS
European

BMI-adjusted waist-hip ratio, physical activity measurement

Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele T
OR 0.03
p 1.0e-8
N 156,653
Meta-analysisLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →

About HOXA11

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]

View all HOXA11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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