{{Rsnum
|rsid=398123038
|Chromosome=20
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=POFUT1
|position=32216609
|Gene_s=POFUT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=20
|CLNACC=RCV000050207.1
|CLNALLE=1
|CLNDBN=Dowling-Degos disease 2
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN178067:615327:79145
|CLNHGVS=NC_000020.10:g.30804412G>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=607491.0001
|Disease=Dowling-Degos disease 2
|FwdALT=T
|FwdREF=G
|GENEINFO=POFUT1:23509
|GENE_ID=23509
|GENE_NAME=POFUT1
|REF=G
|RSPOS=30804412
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=138
|rsid=398123038
}}