rs55983207

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GWAS Catalog Trait Associations (5)

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

heel bone mineral density

Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)
Allele T
OR 0.07
p 4.0e-41
N 426,824
Large GWAS
European

bone fracture

Nethander M et al. “An atlas of genetic determinants of forearm fracture.” Nature Genetics 55(11):1820-1830 (2023)
Allele T
OR 1.15
p 3.0e-37
N 1,020,094
Large GWAS
European

femoral neck 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 0.12
p 7.0e-15
N 32,735
Large GWAS
European
Pei YF et al. “Joint study of two genome-wide association meta-analyses identified 20p12.1 and 20q13.33 for bone mineral density.” Bone 110:378-385 (2018)
Allele C
OR 0.11
p 3.0e-9
N 40,491
Large GWAS
multi-ancestry

hip bone mineral density

Styrkarsdottir U et al. “Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures.” Nature Communications 7:10129 (2016)
Allele C
OR 0.22
p 3.0e-10
N 20,162
Large GWAS
multi-ancestry

bone tissue density

Qian 钱雨 Y et al. “Genome-wide Association Studies of over 30,000 Samples with Bone Mineral Density at Multiple Skeletal Sites and Its Clinical Relevance.” Genomics, Proteomics & Bioinformatics 23(5) (2025)
Allele C
OR 0.14
p 2.0e-8
N 31,873
Large GWAS
European
Medina-Gomez C et al. “Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.” American Journal of Human Genetics 102(1):88-102 (2018)
Allele C
OR 0.14
p 3.0e-8
N 22,504
Meta-analysisLarge GWAS
European, African American or Afro-Caribbean
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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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