rs7117858

This is a intron variant variant in the LINC02751 gene.

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GWAS Catalog Trait Associations (1)

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

bone tissue density

Rivadeneira F et al. “Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.” Nature Genetics 41(11):1199-206 (2009)
Allele G
OR 0.09
p 6.0e-10
N 19,195
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (2)

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Meta-analysis of genome-wide studies identifies WNT16 and ESR1 SNPs associated with bone mineral density in premenopausal women
Meta-analysisN=9,658Koller DL et al.(2013)· Journal of Bone and Mineral Research

Meta-analysis of GWAS in 4,061 premenopausal women (ages 20-45) identified two genes associated with bone mineral density at the lumbar spine and femoral neck. WNT16 SNP rs3801387 showed the strongest association (joint p=1.3×10^-11, beta=-0.115) and ESR1/C6orf97 SNPs including rs4870044 (joint p=1.4×10^-10) and rs6930633 (joint p=1.16×10^-8) achieved genome-wide significance. Results were replicated in 5,597 additional premenopausal women from diverse ancestries, confirming that genetic variants in bone formation genes similarly affect peak bone mass during the premenopausal period.

Traits studied:Bone mineral densityFemoral neck BMDLumbar spine BMDOsteoporosisPeak bone mass
PubMedDOIMetascience Observatory
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Genetic variants in the SOX6 gene are associated with bone mineral density in both Caucasian and Chinese populations
AssociationN=4,913Yang TL et al.(2012)· Osteoporosis International

This fine-mapping association study identified 20 SNPs in the SOX6 gene significantly associated with hip bone mineral density (BMD) across Caucasian and Chinese populations. The most significant SNP was rs1347677 (P=3.15×10⁻⁷) located in intron 3, associated with reduced hip BMD (beta=-0.0173 to -0.0094). The previously reported SNP rs7117858 was successfully replicated (P=2.45×10⁻⁴). Notably, the association showed skeletal site specificity with no significant associations detected for spine BMD.

Traits studied:Bone mineral densityHip BMDOsteoporosisSpine BMD
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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