{{Rsnum
|rsid=267606642
|Chromosome=21
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=AIRE
|position=44286663
|Gene_s=AIRE
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=21
|CLNACC=RCV000003481.1
|CLNALLE=1
|CLNDBN=AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
|CLNDSDB=MedGen
|CLNDSDBID=CN068638
|CLNHGVS=NC_000021.8:g.45706546T>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=607358.0011
|Disease=AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME
|FwdALT=G
|FwdREF=T
|GENEINFO=AIRE:326
|GENE_ID=326
|GENE_NAME=AIRE
|REF=T
|RSPOS=45706546
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267606642
}}