rs2371767

This is a intron variant variant in the ADAMTS9-AS2 gene.

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GWAS Catalog Trait Associations (11)

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 G
OR 0.04
p 6.0e-92
N 660,648
Large GWAS
European
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele G
OR 0.06
p 9.0e-85
N 219,872
Major Consortium StudyLarge GWAS
European
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 G
OR 0.03
p 5.0e-12
N 149,672
Meta-analysisLarge GWAS
multi-ancestry
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele G
OR 0.06
p 1.0e-26
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 G
OR 0.06
p 3.0e-21
N 118,949
Meta-analysisLarge GWAS
multi-ancestry

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele C
OR 0.05
p 3.0e-56
N 219,872
Major Consortium StudyLarge 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 G
OR 0.06
p 3.0e-22
N 156,653
Meta-analysisLarge GWAS
multi-ancestry

hip circumference

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.02
p 5.0e-15
N 394,642
Large GWAS
European

body fat percentage

Martin S et al. “Genetic Evidence for Different Adiposity Phenotypes and Their Opposing Influences on Ectopic Fat and Risk of Cardiometabolic Disease.” Diabetes 70(8):1843-1856 (2021)
Allele C
OR —
β 0.012
p 2.0e-12
N 442,278
Large GWAS
European

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.01
p 3.0e-11
N 1,122,049
Large GWAS
European
Hoffmann TJ et al. “A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.” Genetics 210(2):499-515 (2018)
Allele G
OR —
β 0.016
p 3.0e-8
N 334,487
Large GWAS
multi-ancestry

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele C
OR 0.03
p 8.0e-14
N 186,825
Major Consortium StudyLarge GWAS
European

About ADAMTS9-AS2

Implicated in diabetic retinopathy. [provided by Alliance of Genome Resources, Jul 2025]

View all ADAMTS9-AS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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