{{Rsnum
|rsid=121918547
|Gene=AAAS
|Chromosome=12
|position=53309158
|Orientation=minus
|GMAF=0.001377
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=AAAS
}}{{omim
|id=605378
|rsnum=121918547
|variant=0001
}}{{ClinVar
|rsid=121918547
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=53702942
|CHROM=12
|GMAF=0.0014
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000016110100
|GENEINFO=AAAS:8086
|GENE_NAME=AAAS
|GENE_ID=8086
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.53702942G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605378.0001
|CLNSIG=5
|CLNCUI=C0271742
|CLNDBN=Glucocorticoid deficiency with achalasia
|Disease=Glucocorticoid deficiency with achalasia
|CLNACC=RCV000005342.1
|Tags=RV;PM;S3D;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9986; 0.001377
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0271742:231550:869:45414006
|COMMON=1
}}