{{Rsnum
|rsid=142788946
|Chromosome=21
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=AIRE
|position=44287012
|Gene_s=AIRE
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=142788946
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=45706895
|CHROM=21
|dbSNPBuildID=134
|SSR=0
|SAO=1
|VP=0x050060000000000002100100
|GENEINFO=AIRE:326
|GENE_NAME=AIRE
|GENE_ID=326
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000021.8:g.45706895G>T
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Polyglandular autoimmune syndrome, type 1
|Disease=Polyglandular autoimmune syndrome
|Tags=PM;OTHERKG;LSD
|CLNACC=RCV000029311.1
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0085859:240300:3453:11244009
}}