rs1060105

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GWAS Catalog Trait Associations (2)

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

diastolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele T
OR 0.17
p 3.0e-19
N 1,028,980
Large GWAS
multi-ancestry
Surendran P et al. “Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.” Nature Genetics 48(10):1151-1161 (2016)
Allele T
OR 0.18
p 3.0e-8
N 192,763
Large GWAS
multi-ancestry

osteoarthritis, knee

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 C
OR 1.07
p 2.0e-8
N 586,030
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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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

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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