rs2431697

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (2)

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

systemic lupus erythematosus

Khunsriraksakul C et al. “Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.” Nature Communications 14(1):668 (2023)
Allele T
OR 0.10
p 3.0e-37
N 718,496
Large GWAS
multi-ancestry
Yin X et al. “Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus.” Annals of the Rheumatic Diseases 80(5):632-640 (2021)
Allele T
OR 1.24
p 1.0e-28
N 208,370
Meta-analysisLarge GWAS
East Asian
Bentham J et al. “Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.” Nature Genetics 47(12):1457-1464 (2015)
Allele T
OR 1.26
p 8.0e-28
N 14,267
Large GWAS
European
Zhang YM et al. “Shared genetic study gives insights into the shared and distinct pathogenic immunity components of IgA nephropathy and SLE.” Molecular Genetics and Genomics : Mgg 296(4):1017-1026 (2021)
Allele T
OR —
p 3.0e-8
N 4,049
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Risk for myasthenia gravis maps to a 151 Pro→Ala change in TNIP1 and to human leukocyte antigen‐B*08
AssociationN=3,245Peter K. Gregersen et al.(2012)· Annals of Neurology

A two-stage genome-wide association study of 649 early-onset myasthenia gravis patients identified HLA-B*08 as the major genetic risk factor (OR=6.41, p=2.87×10⁻¹¹³) and TNIP1 Pro151Ala (rs2233290, OR=1.92, p=3.4×10⁻⁹) as a novel non-HLA locus. Together with PTPN22 (rs2476601, OR=1.71, p=8.2×10⁻¹⁰), these loci account for 62.9% of population attributable risk, implicating dysregulation of NF-κB signaling pathways in myasthenia gravis pathogenesis.

Traits studied:Autoimmune thyroid diseaseEarly-onset myasthenia gravis (EOMG)PsoriasisRheumatoid arthritisSystemic lupus erythematosusSystemic sclerosisType 1 diabetes
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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