rs2187689

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (1)

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

lumbar disc degeneration

Williams FM et al. “Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.” Annals of the Rheumatic Diseases 72(7):1141-8 (2013)
Allele C
OR 0.23
p 3.0e-8
N 4,683
Meta-analysis
European
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Research that mentions this SNP (1)

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Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing
Meta-analysisN=23,143Tapio Videman et al.(2009)· Arthritis &amp; Rheumatism

This genome-wide meta-analysis of sciatica in Finnish populations (291 cases, 3,671 controls in discovery; 776 cases, 18,489 controls in replication) identified five novel variants at two loci associated with sciatica at genome-wide significance. The strongest association was a single-base insertion rs71321981 (chr9:14344410:I) in the NFIB gene at 9p22.3 (p = 1.30×10⁻⁸, MAF = 0.08), which replicated in an independent Finnish sample (p = 0.04). Four additional variants at 15q21.2 in the MYO5A gene showed genome-wide significance (p = 1.34×10⁻⁸ to 4.78×10⁻⁸) but failed replication.

Traits studied:Degenerative lumbar spinal stenosis with radicular painLow back painLumbar disc degenerationLumbar disc herniationMusculoskeletal disordersOsteoarthritisSciatica
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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