{{Rsnum
|rsid=386833672
|Chromosome=21
|Orientation=plus
|geno1=(-;-)
|geno2=(-;A)
|geno3=(A;A)
|Gene=AIRE
|position=44293060
|Gene_s=AIRE
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=TA
|CHROM=21
|CLNACC=RCV000049632.1
|CLNALLE=1
|CLNDBN=Polyglandular autoimmune syndrome, type 1
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0085859:240300:3453:11244009
|CLNHGVS=NC_000021.8:g.45712943_45712944insA
|CLNSIG=4
|Disease=Polyglandular autoimmune syndrome
|FwdALT=A
|REF=T
|RSPOS=45712943
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=386833672
|GENEINFO=AIRE:326
|GENE_ID=326
|GENE_NAME=AIRE
}}{{PMID Auto
|PMID=9398840
|Title=An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.
}}