rs2710872

This variant is located in the AGRN gene.

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GWAS Catalog Trait Associations (2)

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

hip bone size

Zhang H et al. “Pleiotropic loci underlying bone mineral density and bone size identified by a bivariate genome-wide association analysis.” Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa 31(9):1691-1701 (2020)

Allele T

OR 0.12

p 3.0e-9

N 6,175

Large GWAS

multi-ancestry

hip bone mineral density, hip bone size

Allele T

OR —

p 1.0e-8

N 6,175

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

Congenital myasthenic syndrome 8; not provided

View on ClinVar →

About AGRN

This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]