rs6426749

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GWAS Catalog Trait Associations (7)

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

femoral neck bone mineral 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 0.11
p 7.0e-57
N 32,961
Meta-analysisLarge 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 0.10
p 2.0e-22
N 31,873
Large GWAS
European

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 0.10
p 5.0e-20
N 31,986
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 0.08
p 2.0e-15
N 31,986
Large GWAS
European

erythrocyte attribute

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele C
OR 0.06
p 6.0e-11
N 39,470
Large GWAS
European

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 0.09
p 9.0e-19
N 31,873
Large GWAS
European

Red cell distribution width

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele G
OR —
p 2.0e-28
N 563,352
Large GWAS
multi-ancestry
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Research that mentions this SNP (2)

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Genetic variants in a long noncoding RNA related to Sunitinib Resistance predict risk and survival of patients with renal cell carcinoma
AssociationN=2,024Qianwei Xing et al.(2019)· Cancer Medicine

A two-stage case-control study of 1002 RCC cases and 1022 controls examined associations between lncARSR polymorphisms and renal cell carcinoma (RCC) risk and survival in a Chinese population. rs7859384 GA/GG genotypes were associated with decreased RCC risk across four genetic models (all P < 0.05; OR = 0.77, 95% CI = 0.64-0.94 for stage I/II; OR = 0.79, 95% CI = 0.65-0.95 for clear cell RCC) and higher overall survival (adjusted HR = 0.34, 95% CI = 0.16-0.73, P = 0.005).

Traits studied:Clear cell RCCRCC survivalRCC susceptibilityRenal cell carcinoma (RCC)Sunitinib resistance
PubMedDOIMetascience Observatory
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Multiple Functional Variants at 13q14 Risk Locus for Osteoporosis Regulate RANKL Expression Through Long-Range Super-Enhancer
ReviewDong-Li Zhu et al.(2018)· Journal of Bone and Mineral Research

This is a perspective and mission statement from the GEMSTONE Consortium reviewing current and future approaches for functional validation of skeletal genetic disease using cellular, molecular, and animal-modeling techniques. The paper discusses how large GWAS have identified 518 loci associated with bone mineral density (BMD), and reviews strategies for bridging the gap between genetic association and causality through functional investigation, including the role of miRNAs (e.g., rs11614913 in MIR196A2 and rs1048201 in FGF2 3'UTR associated with lumbar spine BMD), endophenotypes, Mendelian randomization, and animal models in understanding skeletal diseases like osteoporosis.

Traits studied:Atypical femoral fracturesBone mineral density (BMD)Fracture riskHigh bone mass phenotypeOsteogenesis imperfectaOsteopetrosisOsteoporosisOsteoporosis-pseudoglioma syndromeSkeletal diseaseVan Buchem disease
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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