rs115242848

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (6)

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 0.30
p 5.0e-141
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 0.38
p 6.0e-88
N 142,487
Large GWAS
European

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 T
OR 0.35
p 8.0e-13
N 20,162
Large GWAS
multi-ancestry

spine 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 T
OR 0.36
p 1.0e-12
N 20,132
Large GWAS
multi-ancestry

wnt inhibitory factor 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.20
p 4.0e-12
N 47,745
Large GWAS
European

osteoporosis

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.49
p 3.0e-8
N 667,227
Large GWAS
multi-ancestry

bone tissue density

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 T
OR 0.31
p 2.0e-14
N 66,945
Meta-analysisLarge GWAS
multi-ancestry
Surakka I et al. “MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk.” Nature Communications 11(1):4093 (2020)
Allele T
OR 0.39
p 7.0e-14
N 21,907
Large GWAS
European

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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