{{Rsnum
|rsid=193922417
|Gene=AIRE
|Chromosome=21
|position=44287041
|Orientation=plus
|GMAF=0.0004591
|Gene_s=AIRE
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ClinVar
|rsid=193922417
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=45706924
|CHROM=21
|GMAF=0.0005
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050060000000000016100100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000021.8:g.45706924C>T
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Polyglandular autoimmune syndrome, type 1
|Disease=Polyglandular autoimmune syndrome
|Tags=PM;KGPhase1;KGPROD;OTHERKG;LSD
|CAF=0.9995; 0.0004591
|CLNACC=RCV000029312.1
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0085859:240300:3453:11244009
|COMMON=0
|GENEINFO=AIRE:326
|GENE_ID=326
|GENE_NAME=AIRE
}}