rs224333

This is a regulatory region variant variant in the GDF5 gene.

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GWAS Catalog Trait Associations (6)

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

osteoarthritis, knee

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele A
OR 0.94
p 6.0e-42
N 1,316,500
Large GWAS
multi-ancestry

osteoarthritis, knee, total knee arthroplasty

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele A
OR 0.92
p 8.0e-31
N 1,006,624
Large GWAS
multi-ancestry

osteoarthritis

Shigesi N et al. “The phenotypic and genetic association between endometriosis and immunological diseases.” Human Reproduction (oxford, England) 40(6):1195-1209 (2025)
Allele G
OR 0.02
p 6.0e-14
N 256,040
Large GWAS
European

forced expiratory volume, 25-hydroxyvitamin D3 measurement

Seo J et al. “Exploiting meta-analysis of genome-wide interaction with serum 25-hydroxyvitamin D to identify novel genetic loci associated with pulmonary function.” The American Journal of Clinical Nutrition 119(5):1227-1237 (2024)
Allele G
OR —
p 8.0e-13
N 115,312
Meta-analysisLarge GWAS
multi-ancestry

BMI-adjusted waist-hip ratio

Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele G
OR 0.04
p 9.0e-12
N 143,480
Large GWAS
multi-ancestry
Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele G
OR 0.05
p 3.0e-11
N 118,949
Meta-analysisLarge GWAS
multi-ancestry

body height

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.05
p 1.0e-84
N 153,950
Large GWAS
East Asian
Chiou JS et al. “Your height affects your health: genetic determinants and health-related outcomes in Taiwan.” Bmc Medicine 20(1):250 (2022)
Allele A
OR 0.07
p 8.0e-40
N 67,452
Large GWAS
East Asian
Graff M et al. “Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.” American Journal of Human Genetics 108(4):564-582 (2021)
Allele A
OR 0.06
p 3.0e-8
N 41,389
Large GWAS
multi-ancestry
Berndt SI et al. “Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.” Nature Genetics 45(5):501-12 (2013)
Allele A
OR 1.31
p 8.0e-37
N 16,196
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies
AssociationN=1,369Marilyn L. Browne et al.(2012)· American Journal of Medical Genetics Part A

Population-based case-control study of 389 infants with congenital limb deficiencies and 980 controls examining 132 SNPs in 20 candidate genes involved in limb development, angiogenesis, and coagulation. Among non-Hispanic white infants, SNPs in FGF10 (rs10805683: OR=1.99, 95% CI=1.43-2.77; rs13170645: OR=2.37, 95% CI=1.48-3.78) showed significant associations with limb deficiencies after multiple testing correction, with supportive evidence for genes including EN1, WNT7A, CYP26B1, SHH, and TBX5.

Traits studied:Congenital limb deficienciesIntercalary limb deficienciesLongitudinal limb deficienciesTransverse limb deficiencies
PubMedDOIMetascience Observatory

About GDF5

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]

View all GDF5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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