{{Rsnum
|rsid=397515354
|Chromosome=2
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=CYP27A1
|position=218812750
|Gene_s=CYP27A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=2
|CLNACC=RCV000004479.2
|CLNALLE=1
|CLNDBN=Cholestanol storage disease
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1409:C0238052:213700:909:63246000
|CLNHGVS=NC_000002.11:g.219677473G>A
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1409; 606530.0004
|Disease=Cholestanol storage disease
|FwdALT=A
|FwdREF=G
|GENEINFO=CYP27A1:1593
|GENE_ID=1593
|GENE_NAME=CYP27A1
|REF=G
|RSPOS=219677473
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397515354
}}