rs884205

This is a 3 prime utr variant variant in the TNFRSF11A gene.

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GWAS Catalog Trait Associations (16)

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

alkaline phosphatase measurement

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 0.04
p 3.0e-73
N 394,642
Large GWAS
European
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 0.04
p 3.0e-65
N 463,178
Large GWAS
multi-ancestry
Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele C
OR 14.50
p 2.0e-47
N 390,964
Large GWAS
multi-ancestry

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 A
OR 0.03
p 6.0e-38
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 A
OR 0.03
p 1.0e-18
N 142,487
Large GWAS
European

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.01
p 5.0e-28
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

sclerostin measurement

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 0.06
p 1.0e-24
N 47,745
Large GWAS
European

collagen alpha-1(I) chain measurement

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 0.06
p 2.0e-22
N 47,745
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 A
OR —
β 0.050
p 2.0e-17
N 32,961
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 A
OR 0.06
p 3.0e-10
N 31,873
Large GWAS
European
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 A
OR 0.08
p 9.0e-9
N 19,195
Meta-analysisLarge GWAS
European
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 A
OR —
β 0.072
p 1.0e-8
N 18,805
Meta-analysisLarge GWAS
European
Kemp JP et al. “Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.” Plos Genetics 10(6):e1004423 (2014)
Allele A
OR 0.10
p 2.0e-8
N 9,385
Large GWAS
multi-ancestry

level of complement C1q-like protein 2 in blood serum

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 0.05
p 6.0e-17
N 47,745
Large GWAS
European

level of chondroadherin in blood serum

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 0.05
p 2.0e-16
N 47,745
Large GWAS
European

tumor necrosis factor receptor superfamily member 11A amount

Kalnapenkis A et al. “Genetic determinants of plasma protein levels in the Estonian population.” Scientific Reports 14(1):7694 (2024)
Allele C
OR 0.47
p 6.0e-15
N 497
Small GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele C
OR —
β 0.220
p 2.0e-14
N 3,301
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
2 submitters1 publication

Autosomal recessive osteopetrosis 7; Paget disease of bone 2, early-onset (PDB2)

View on ClinVar →
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Research that mentions this SNP (3)

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Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone
AssociationN=744Pui Yan Jenny Chung et al.(2010)· Journal of Bone and Mineral Research

This association study identifies genetic variants in the TNFRSF11A gene (encoding RANK) associated with susceptibility to sporadic Paget's disease of bone (PDB) in three European populations. Meta-analysis across Belgian, Dutch, and British cohorts shows rs1805034 (A192V, p=1.27×10⁻⁸, OR=1.627) and rs35211496 (H141Y, p=.002, OR=1.410) are significantly associated with PDB, with strongest effects observed in females. Haplotype analysis in Belgian females identified risk haplotypes CGACGAA and AAAGGG with ORs of 2.808 and 3.462 respectively, though functional studies did not identify a definitive causative variant.

Traits studied:Paget's disease of boneSporadic Paget's disease of bone
PubMedDOIMetascience Observatory
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Association Analyses of RANKL/RANK/OPG Gene Polymorphisms with Femoral Neck Compression Strength Index Variation in Caucasians
AssociationN=1,873Shan-Shan Dong et al.(2009)· Calcified Tissue International

This association study of 1,873 subjects from 405 Caucasian nuclear families examined RANKL/RANK/OPG gene polymorphisms in relation to femoral neck compression strength index (fCSI). Three RANKL SNPs (rs12585014, rs7988338, rs2148073) were significantly associated with fCSI (P = 0.0007, 0.0007, and 0.0005, respectively) after Bonferroni correction, with a haplotype showing even stronger association (P = 0.0003). No significant associations were detected with bone mineral density, femoral neck width, or weight.

Traits studied:Femoral neck bone mineral densityFemoral neck compression strength indexFemoral neck widthHip fracture risk
PubMedDOIMetascience Observatory
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Is a gene important for bone resorption a candidate for obesity? An association and linkage study on the RANK (receptor activator of nuclear factor-κB) gene in a large Caucasian sample
AssociationN=4,102Lan-Juan Zhao et al.(2006)· Human Genetics

This linkage and family-based association study of 4,102 Caucasian subjects examined the RANK gene (chromosome 18q21.33) for association with obesity-related phenotypes. Linkage analysis achieved empirical P=0.004 for BMI at the RANK locus. Association testing of 18 SNPs identified 8 variants associated with obesity phenotypes (P<0.05), with strongest associations at rs11664594/SNP7 (P=0.002-0.003 for BMI, fat mass, lean mass, PFM) and rs4436867/SNP10 (P=0.002 for obesity) and rs4941125/SNP16 (P=0.001 for obesity). Multi-marker analysis showed significant association of the RANK gene with percentage fat mass (P=0.006).

Traits studied:Body mass index (BMI)Fat massLean massObesityOsteoporosisPercentage fat mass (PFM)
PubMedDOIMetascience Observatory

About TNFRSF11A

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]

View all TNFRSF11A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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