{{Rsnum
|rsid=386833674
|Chromosome=21
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=AIRE
|position=44291147
|Gene_s=AIRE
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=21
|CLNACC=RCV000049634.1
|CLNALLE=1
|CLNDBN=Polyglandular autoimmune syndrome, type 1
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0085859:240300:3453:11244009
|CLNHGVS=NC_000021.8:g.45711030G>A
|CLNSIG=4
|Disease=Polyglandular autoimmune syndrome
|FwdALT=A
|FwdREF=G
|REF=G
|RSPOS=45711030
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386833674
|GENEINFO=AIRE:326
|GENE_ID=326
|GENE_NAME=AIRE
}}{{PMID Auto
|PMID=10677297
|Title=Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.
|OA=1
}}