rs13238352
This variant is located in the TNPO3 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
systemic scleroderma, rheumatoid arthritis, myositis, systemic lupus erythematosus
Acosta-Herrera M et al. “Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.” Annals of the Rheumatic Diseases 78(3):311-319 (2019)
Allele T
OR 1.44
p 1.0e-38
N 31,408
Meta-analysisLarge GWAS
European
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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