rs72755233

This variant is located in the ADAMTS17 gene.

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GWAS Catalog Trait Associations (18)

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

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 0.04
p 2.0e-100
N 405,979
Large GWAS
European

corneal resistance factor

Simcoe MJ et al. “Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic etiology of ocular diseases.” Human Molecular Genetics 29(18):3154-3164 (2020)
Allele G
OR 0.23
p 1.0e-95
N 106,030
Large GWAS
European
He W et al. “Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.” Jama Ophthalmology 140(6):568-576 (2022)
Allele G
OR 0.13
p 5.0e-88
N 123,734
Major Consortium StudyLarge GWAS
European
Jiang X et al. “Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.” Communications Biology 3(1):762 (2020)
Allele G
OR 0.22
p 8.0e-54
N 76,029
Large GWAS
European
Khawaja AP et al. “Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.” Jama Ophthalmology 137(9):1005-1012 (2019)
Allele G
OR 0.23
p 5.0e-8
N 6,645
Large GWAS
European

central corneal thickness

He W et al. “Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.” Jama Ophthalmology 140(6):568-576 (2022)
Allele A
OR 6.88
p 2.0e-67
N 17,803
Major Consortium StudyLarge GWAS
European
Bonnemaijer PWM et al. “Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.” Communications Biology 2:435 (2019)
Allele A
OR 4.08
p 4.0e-10
N 16,204
Large GWAS
European

intraocular pressure measurement

Gao XR et al. “Genome-wide association analyses identify new loci influencing intraocular pressure.” Human Molecular Genetics 27(12):2205-2213 (2018)
Allele G
OR 0.30
p 3.0e-45
N 115,486
Large GWAS
European

forced expiratory volume

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 0.03
p 2.0e-37
N 373,397
Large GWAS
European

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 A
OR 0.06
p 1.0e-35
N 186,825
Major Consortium StudyLarge GWAS
European

fat pad mass

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 0.03
p 5.0e-21
N 394,642
Large GWAS
European

carpal tunnel syndrome

Skuladottir AT et al. “A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.” Nature Communications 13(1):1598 (2022)
Allele A
OR 1.10
p 3.0e-19
N 1,239,680
Meta-analysisLarge GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.11
p 2.0e-10
N 658,927
Large GWAS
multi-ancestry
Wiberg A et al. “A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.” Nature Communications 10(1):1030 (2019)
Allele A
OR 1.18
p 2.0e-15
N 401,656
Large GWAS
European

base metabolic rate measurement

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 0.01
p 2.0e-13
N 394,642
Large GWAS
European
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ClinVar annotation

Benign★★★☆
5 submitters2 publications

Weill-Marchesani 4 syndrome, recessive; not provided; not specified

View on ClinVar →

About ADAMTS17

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]

View all ADAMTS17 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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