rs6976

This is a regulatory region variant variant in the GNL3 gene.

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GWAS Catalog Trait Associations (3)

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

osteoarthritis, hip, osteoarthritis, knee

Tachmazidou I et al. “Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.” Nature Genetics 51(2):230-236 (2019)
Allele T
OR 1.05
p 2.0e-10
N 417,596
Major Consortium StudyLarge GWAS
European

memory performance

Lahti J et al. “Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning.” Molecular Psychiatry 27(11):4419-4431 (2022)
Allele T
OR 5.55
p 3.0e-8
N 28,909
Large GWAS
European

osteoarthritis, hip

Styrkarsdottir U et al. “Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.” Nature Genetics 50(12):1681-1687 (2018)
Allele T
OR 1.07
p 4.0e-8
N 613,790
Meta-analysisLarge GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (2)

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Genome‐Wide Association Study of Radiographic Knee Osteoarthritis in North American Caucasians
AssociationN=7,066Yau MS et al.(2017)· Arthritis &amp; Rheumatology

This genome-wide association study (GWAS) of radiographic tibiofemoral knee osteoarthritis in 3,898 cases and 3,168 controls from four North American cohorts identified one novel locus near LSP1P3 (rs4867568, OR=0.84, P=3.02×10⁻⁶) and confirmed associations with previously reported loci GDF5 (rs143383, OR=1.12, P=2.13×10⁻³) and FTO (rs8044769, OR=1.10, P=6.13×10⁻³). Despite the large sample size and standardized radiographic phenotyping, no variants achieved genome-wide significance, highlighting the polygenic nature of knee OA.

Traits studied:Knee osteoarthritisRadiographic tibiofemoral osteoarthritis
PubMedDOIMetascience Observatory
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A large‐scale replication study for the association of rs17039192 in HIF‐2α with knee osteoarthritis
AssociationN=595Masahiro Nakajima et al.(2012)· Journal of Orthopaedic Research

Candidate gene study of 4 SNPs in Russian population replicating GWAS-significant variants associated with stage 4 knee osteoarthritis. The A allele of rs6499244 in NFAT5 was identified as a risk factor for knee osteoarthritis in additive (OR=1.61, p=0.02) and recessive (OR=2.07, p=0.02) models. Functional analysis shows rs6499244 is located in DNase-hypersensitive regions and enhancers, associated with expression of 9 genes including NFAT5 itself.

Traits studied:Knee osteoarthritisStage 4 knee osteoarthritis
PubMedDOIMetascience Observatory

About GNL3

The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

View all GNL3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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