{{Rsnum
|rsid=387906295
|Chromosome=21
|Orientation=plus
|geno1=(-;-)
|geno2=(-;C)
|geno3=(C;C)
|Gene=AIRE
|position=44289793
|Gene_s=AIRE
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=21
|CLNACC=RCV000003479.1
|CLNALLE=1
|CLNDBN=Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia
|CLNDSDB=MedGen
|CLNDSDBID=C2749602
|CLNHGVS=NC_000021.8:g.45709676delC
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=607358.0009
|Disease=Autoimmune polyglandular syndrome type 1
|FwdREF=C
|REF=GC
|RSPOS=45709675
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD
|VC=DIV
|VP=0x050060000000000002100200
|WGT=0
|dbSNPBuildID=137
|rsid=387906295
|GENEINFO=AIRE:326
|GENE_ID=326
|GENE_NAME=AIRE
}}