rs6542457

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GWAS Catalog Trait Associations (1)

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

spine bone mineral density

Zheng HF et al. “Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.” Nature 526(7571):112-7 (2015)
Allele C
OR 0.09
p 2.0e-9
N 28,498
Large GWAS
European
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Research that mentions this SNP (1)

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Rare EN1 Variants and Pediatric Bone Mass
AssociationN=1,418Jonathan A. Mitchell et al.(2016)· Journal of Bone and Mineral Research

This study examined rare variants near EN1 and common variants near SOX6 for associations with pediatric bone mineral density in 1,418 children and adolescents (733 females, 685 males). The rare T allele of rs11692564 (EN1) was associated with higher bone density at the total hip (beta=0.62, p=9.0×10⁻⁴) and femoral neck (beta=0.53, p=0.010), with much stronger effects in females (total hip beta=0.86, p=6.6×10⁻⁶). The common G allele of rs11024028 (SOX6) was also associated with higher bone density, with differences in skeletal sites between sexes, suggesting early-life genetic mechanisms underlying osteoporosis risk.

Traits studied:Areal bone mineral density (aBMD)Bone mineral content (BMC)Osteoporosis risk
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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