rs309137

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GWAS Catalog Trait Associations (5)

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

vital capacity

Shrine N et al. “Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.” Nature Genetics 55(3):410-422 (2023)
Allele T
OR 9.83
p 8.0e-23
N 588,452
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 5.0e-16
N 394,642
Large GWAS
European

degree of unsaturation measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 3.0e-19
N 450,015
Large GWAS
multi-ancestry

blood protein amount

Lopez de Lapuente Portilla A et al. “Genome-wide association study on 13 167 individuals identifies regulators of blood CD34+cell levels.” Blood 139(11):1659-1669 (2022)
Allele C
OR 0.12
p 1.0e-15
N 10,949
Large GWAS
European

polyunsaturated fatty acids to total fatty acids percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 3.0e-14
N 450,015
Large GWAS
multi-ancestry

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 C
OR —
p 3.0e-8
N 95,952
Meta-analysisLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genome‐wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility
AssociationN=1,604Antonio Julià et al.(2008)· Arthritis &amp; Rheumatism

A two-stage genome-wide association study (GWAS) in Spanish population identified KLF12 as a new susceptibility locus for rheumatoid arthritis, with rs1324913 showing stronger association (P=0.01) in replication than PTPN22 rs2476601. Joint analysis with three previous GWAS studies confirmed KLF12 and PTPRT as commonly associated loci, with KLF12 SNP rs1887346 and rs9318228 showing P values of 6.03×10⁻⁵ and 3.66×10⁻⁵ in the discovery phase and evidence of replication across multiple populations.

Traits studied:Chronic inflammatory arthritisConnective tissue disordersCrohn's diseasePsoriatic arthritisRheumatoid arthritisSpondylarthritisSystemic lupus erythematosusType 1 diabetes mellitusVitiligo
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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