rs7168391

This variant is located in the ADAMTS7 gene.

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GWAS Catalog Trait Associations (2)

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

drug use measurement, coronary artery disease

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 G
OR 0.06
p 3.0e-18
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

aortic measurement

Benjamins JW et al. “Genomic insights in ascending aortic size and distensibility.” Ebiomedicine 75:103783 (2022)
Allele G
OR 0.04
p 4.0e-9
N 31,908
Large GWAS
Tcheandjieu C et al. “High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease.” Nature Genetics 54(6):772-782 (2022)
Allele G
OR —
β 0.040
p 5.0e-8
N 33,031
Large GWAS
multi-ancestry
Francis CM et al. “Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities.” Nature Communications 13(1):4505 (2022)
Allele G
OR 6.77
p 2.0e-8
N 32,590
Large GWAS
European

About ADAMTS7

The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family 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 enzyme. This enzyme contains two C-terminal TS motifs and may regulate vascular smooth muscle cell (VSMC) migration. Mutations in this gene may be associated with susceptibility to coronary artery disease. [provided by RefSeq, Feb 2016]

View all ADAMTS7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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