rs12531711

This is a intron variant variant in the TNPO3 gene.

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GWAS Catalog Trait Associations (4)

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

primary biliary cirrhosis

Cordell HJ et al. “An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.” Journal of Hepatology 75(3):572-581 (2021)
Allele G
OR 0.42
p 9.0e-41
N 24,510
Meta-analysisLarge GWAS
European

rheumatoid arthritis

Ishigaki K et al. “Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis.” Nature Genetics 54(11):1640-1651 (2022)
Allele G
OR 1.18
p 3.0e-18
N 276,020
Large GWAS
multi-ancestry

biliary liver cirrhosis

Mells GF et al. “Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.” Nature Genetics 43(4):329-32 (2011)
Allele G
OR 1.58
p 9.0e-17
N 7,003
Large GWAS
European

systemic lupus erythematosus

Lee YH et al. “Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.” Molecular Biology Reports 39(12):10627-35 (2012)
Allele G
OR 1.59
p 6.0e-13
N 4,948
Large GWAS
European
Chung SA et al. “Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.” Plos Genetics 7(3):e1001323 (2011)
Allele G
OR 1.58
p 6.0e-9
N 6,530
Large GWAS
European
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Research that mentions this SNP (1)

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Novel Rheumatoid Arthritis Susceptibility Locus at 22q12 Identified in an Extended UK Genome‐Wide Association Study
AssociationN=8,305Gisela Orozco et al.(2014)· Arthritis &amp; Rheumatology

This extended UK genome-wide association study identified a novel rheumatoid arthritis susceptibility locus at 22q12 (rs1043099, P = 6.9 × 10⁻⁹, OR = 0.84) in 3,034 cases and 5,271 controls, and confirmed 16 previously known RA loci, strengthening evidence for genetic contributors to RA in the UK population.

Traits studied:Rheumatoid arthritis
PubMedDOIMetascience Observatory

About TNPO3

The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Several protein-coding and non-coding transcript variants have been found for this gene. [provided by RefSeq, Apr 2020]

View all TNPO3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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