{{Rsnum
|rsid=398123054
|Chromosome=12
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=AQP5
|position=49962130
|Gene_s=AQP5
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=12
|CLNACC=RCV000055668.1
|CLNALLE=1
|CLNDBN=Diffuse palmoplantar keratoderma, Bothnian type
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1838359:600231:2337
|CLNHGVS=NC_000012.11:g.50355913C>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600442.0001
|Disease=Diffuse palmoplantar keratoderma
|FwdALT=A
|FwdREF=C
|GENEINFO=AQP5:362
|GENE_ID=362
|GENE_NAME=AQP5
|REF=C
|RSPOS=50355913
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=138
|rsid=398123054
}}