{{Rsnum
|rsid=387906326
|Chromosome=12
|position=53308975
|Orientation=minus
|geno1=(-;-)
|geno2=(-;T)
|geno3=(T;T)
|Gene=AAAS
|Gene_s=AAAS
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=TA
|CHROM=12
|CLNACC=RCV000005344.1
|CLNALLE=1
|CLNDBN=Glucocorticoid deficiency with achalasia
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0271742:231550:869:45414006
|CLNHGVS=NC_000012.11:g.53702760dupA
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=605378.0003
|Disease=Glucocorticoid deficiency with achalasia
|FwdALT=T
|REF=T
|RSPOS=53702759
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050060000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=387906326
|GENEINFO=AAAS:8086
|GENE_ID=8086
|GENE_NAME=AAAS
}}