{{Rsnum
|rsid=121908096
|Chromosome=2
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CYP27A1
|position=218814186
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CYP27A1
}}{{omim
|id=606530
|rsnum=121908096
|variant=0002
}}
{{omim
|id=606530
|rsnum=121908096
|variant=0008
}}{{ClinVar
|rsid=121908096
|Reversed=0
|FwdREF=C
|FwdALT=A,T
|REF=C
|ALT=A,T
|RSPOS=219678909
|CHROM=2
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=CYP27A1:1593
|GENE_NAME=CYP27A1
|GENE_ID=1593
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000002.11:g.219678909C>A; NC_000002.11:g.219678909C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1409; 606530.0008; 606530.0002
|CLNSIG=5
|CLNCUI=C0238052
|CLNDBN=Cholestanol storage disease
|Disease=Cholestanol storage disease
|CLNACC=RCV000004483.2; RCV000004477.2
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1409:C0238052:213700:909:63246000
}}