rs71390846

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (7)

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 G
OR 0.04
p 6.0e-59
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 G
OR 0.04
p 4.0e-20
N 142,487
Large GWAS
European

body height

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.01
p 5.0e-15
N 525,444
Large GWAS
multi-ancestry

femoral neck bone mineral 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 0.07
p 1.0e-11
N 32,017
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 0.06
p 2.0e-11
N 40,491
Large GWAS
multi-ancestry

pelvis bone mineral 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 0.07
p 3.0e-10
N 31,873
Large GWAS
European

spine bone mineral 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 0.07
p 6.0e-10
N 30,449
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 0.06
p 1.0e-9
N 40,491
Large GWAS
multi-ancestry

trunk bone mineral 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 0.06
p 4.0e-8
N 31,986
Large GWAS
European

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 C
OR —
β 0.048
p 1.0e-10
N 66,945
Meta-analysisLarge GWAS
multi-ancestry
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 0.06
p 1.0e-9
N 31,873
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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