rs4870044

This is a intron variant variant in the CCDC170 gene.

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GWAS Catalog Trait Associations (5)

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

osteoporosis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.10
p 5.0e-20
N 622,167
Major Consortium StudyLarge GWAS
multi-ancestry

corticoliberin 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 0.04
p 4.0e-16
N 47,745
Large GWAS
European

bone tissue density

Styrkarsdottir U et al. “Multiple genetic loci for bone mineral density and fractures.” The New England Journal of Medicine 358(22):2355-65 (2008)
Allele T
OR 0.11
p 2.0e-11
N 5,861
Large GWAS
European

total cholesterol measurement

Liu DJ et al. “Exome-wide association study of plasma lipids in >300,000 individuals.” Nature Genetics 49(12):1758-1766 (2017)
Allele T
OR 0.01
p 2.0e-9
N 297,824
Large GWAS
multi-ancestry

alkaline phosphatase measurement

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 T
OR 5.68
p 1.0e-8
N 390,964
Large GWAS
multi-ancestry
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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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Replication study of candidate genes/loci associated with osteoporosis based on genome-wide screening
AssociationN=1,000Zhang YP et al.(2010)· Osteoporosis International

A replication study of 139 SNPs from three prior genome-wide association studies of bone mineral density in an independent sample of 1,000 unrelated US whites confirmed 38 SNPs (27% replication rate). Two SNPs achieved the most significant replication: rs3762397 in NR5A2 and rs3736228 in LRP5. Ten SNPs achieved combined p-values less than 3.6×10⁻⁴ across datasets, including rs3736228 (LRP5) with combined p=5.3×10⁻¹² for spinal BMD.

Traits studied:Bone mineral densityFemoral neck bone mineral density (FNBMD)Hip bone mineral density (HIPBMD)OsteoporosisSpinal bone mineral density (SPNBMD)
PubMedDOIMetascience Observatory

About CCDC170

The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]

View all CCDC170 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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