rs590223

This is a intron variant variant in the TRAF3IP3 gene.

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Research that mentions this SNP (1)

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IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population
AssociationN=862Luciano A. Brito et al.(2012)· American Journal of Medical Genetics Part A

This Brazilian population study examines IRF6 gene variants rs642961 and rs590223 for association with nonsyndromic cleft lip/palate (NSCL/P) in 471 patients and 391 controls. A significant association was found between rs642961 and cleft lip only (CLO, P=0.009; OR 1.72-1.83), with a dominant genetic model, particularly in the high-heritability Barbalha subpopulation. No association was detected for rs590223, and expression analysis in mesenchymal stem cells showed no correlation between SNP genotypes and IRF6 expression levels.

Traits studied:Cleft lip only (CLO)Cleft lip with palate (CLP)Nonsyndromic cleft lip with or without cleft palate (NSCL/P)
PubMedDOIMetascience Observatory

About TRAF3IP3

The gene encodes a protein that mediates cell growth by modulating the c-Jun N-terminal kinase signal transduction pathway. The encoded protein may also interact with a large multi-protein assembly containing the phosphatase 2A catalytic subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

View all TRAF3IP3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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