{{Rsnum
|rsid=397514498
|Chromosome=19
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=AP2S1
|position=46846103
|Gene_s=AP2S1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=19
|CLNACC=RCV000032619.2
|CLNALLE=1
|CLNDBN=Hypocalciuric hypercalcemia, familial, type 3
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1833372:600740:405
|CLNHGVS=NC_000019.9:g.47349360G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=602242.0001
|Disease=Hypocalciuric hypercalcemia
|FwdALT=T
|FwdREF=C
|GENEINFO=AP2S1:1175
|GENE_ID=1175
|GENE_NAME=AP2S1
|REF=G
|RSPOS=47349360
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397514498
}}