rs4233949

This is a intergenic variant variant in the LOC102724072 gene.

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GWAS Catalog Trait Associations (4)

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 C
OR 0.07
p 1.0e-280
N 426,824
Large GWAS
European
Kemp JP et al. “Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis.” Nature Genetics 49(10):1468-1475 (2017)
Allele C
OR 0.07
p 2.0e-110
N 142,487
Large GWAS
European

alkaline phosphatase measurement

Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele C
OR 0.00
p 1.0e-28
N 437,438
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.02
p 3.0e-27
N 394,642
Large GWAS
European

bone tissue density

Estrada K et al. “Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.” Nature Genetics 44(5):491-501 (2012)
Allele C
OR —
β 0.050
p 2.0e-18
N 32,961
Meta-analysisLarge GWAS
multi-ancestry

bone fracture

Trajanoska K et al. “Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study.” Bmj (clinical Research Ed.) 362:k3225 (2018)
Allele G
OR 1.03
p 3.0e-14
N 264,973
Large GWAS
multi-ancestry

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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