{{Rsnum
|rsid=72551313
|Chromosome=2
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=CYP27A1
|position=218809755
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CYP27A1
}}{{omim
|id=606530
|rsnum=72551313
|variant=0011
}}{{ClinVar
|rsid=72551313
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=219674478
|CHROM=2
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=CYP27A1:1593
|GENE_NAME=CYP27A1
|GENE_ID=1593
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.219674478G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1409; 606530.0011
|CLNSIG=5
|CLNCUI=C0238052
|CLNDBN=Cholestanol storage disease
|Disease=Cholestanol storage disease
|CLNACC=RCV000004485.2
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1409:C0238052:213700:909:63246000
}}