rs6421983
This is a regulatory region variant variant in the IFITM3 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (1)
▶Population genetics of IFITM3 in Portugal and Central Africa reveals a potential modifier of influenza severityAssociationN=389Susana David et al.(2018)· Immunogenetics
Population genetics study of IFITM3 variants in Portuguese and Central African populations, analyzing 41 Portuguese influenza A(H1N1)pdm09 patients. The rs34481144-A allele showed a protective effect against severe influenza (OR=0.26, 95% CI 0.07-0.97), while haplotype Hap4 containing this allele was significantly associated with mild disease (OR=0.29, 95% CI 0.10-0.82). The study identified 7 SNPs within the IFITM3 region and estimated the population attributable risk for rs34481144 as 55.91-64.44%.
About IFITM3
Interferon-induced transmembrane (IFITM) proteins are a family of interferon induced antiviral proteins. The family contains five members, including IFITM1, IFITM2 and IFITM3 and belong to the CD225 superfamily. The protein encoded by this gene restricts cellular entry by diverse viral pathogens, such as influenza A virus, Ebola virus and Sars-CoV-2. [provided by RefSeq, Nov 2021]
View all IFITM3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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