rs13148031

This is a intergenic variant variant in the LOC105377462 gene.

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GWAS Catalog Trait Associations (3)

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

chronic lung disease

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 A
OR 0.06
p 9.0e-13
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (2)

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Identification of Novel Loci Associated With Hip Shape: A Meta-Analysis of Genomewide Association Studies
Meta-analysisN=15,934Baird DA et al.(2019)· Journal of Bone and Mineral Research

A GWAS meta-analysis of 15,934 individuals identified 9 SNPs across 8 loci associated with hip shape phenotypes derived from DXA scans. Five SNPs were associated with hip shape mode 1 (HSM1) at genome-wide significance (p < 5×10⁻⁹), three with HSM2, and one with HSM5. Most loci were close to genes involved in endochondral bone formation (SOX9, PTHLH, FGFR4, NKX3-2, DICER1, RUNX1, HHIP) and also associated with height. Three SNPs showed associations with hip osteoarthritis and one with hip fracture risk.

Traits studied:Femoral neck bone mineral densityHeightHip fractureHip osteoarthritisHip shapeWaist circumference
PubMedDOIMetascience Observatory
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Involvement of different risk factors in clinically severe large joint osteoarthritis according to the presence of hand interphalangeal nodes
Meta-analysisN=21,240Ana M. Valdes et al.(2010)· Arthritis &amp; Rheumatism

Genome-wide meta-analysis of minimal joint space width (cartilage thickness proxy) in 21,240 participants identified four novel loci for cartilage thickness and osteoarthritis: TGFA (rs2862851, beta=-0.067), PIK3R1 (rs10471753, beta=0.062), FGFR3/SLBP (rs2236995, beta=0.049), and TREH/DDX6 (rs496547, beta=-0.058), plus two previously identified loci (DOT1L and RUNX2). This is the first report linking TGFA to human OA.

Traits studied:Cartilage thickness (minimal joint space width)Hip 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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