rs575224171

This variant is located in the THSD7A gene.

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GWAS Catalog Trait Associations (1)

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

rotator cuff tear

Tashjian RZ et al. “Genetic variants associated with rotator cuff tearing utilizing multiple population-based genetic resources.” Journal of Shoulder and Elbow Surgery 30(3):520-531 (2021)

Allele T

OR 3.14

p 5.0e-9

N 412,011

Large GWAS

European

About THSD7A

The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]

View all THSD7A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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