Variant: rs1057517241 

    present in Gene: AIRE
    present in Chromosome: 21
    Position on Chromosome: 44287570
    Alleles of this Variant: C/T

rs1057517241 in AIRE gene and Polyglandular Type I Autoimmune Syndrome PMID 10677297 2000 Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.

PMID 9888391 1999 Mutation analyses of North American APS-1 patients.