rs146551666

This is a intron variant variant in the ADAMTSL1 gene.

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GWAS Catalog Trait Associations (2)

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

heel bone mineral density

Pei YF et al. “Joint Association Analysis Identified 18 New Loci for Bone Mineral Density.” Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research 34(6):1086-1094 (2019)

Allele G

OR 0.06

p 1.0e-8

N 142,487

Large GWAS

bone tissue density

Allele G

OR 0.06

p 2.0e-8

N 66,628

Large GWAS

About ADAMTSL1

This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]

View all ADAMTSL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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