{{Rsnum
|rsid=119478057
|Gene=BCMO1
|Chromosome=16
|position=81264677
|Orientation=plus
|GMAF=0.0009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=BCMO1
}}{{omim
|id=605748
|rsnum=119478057
|variant=0001
}}{{ClinVar
|rsid=119478057
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=81298282
|CHROM=16
|GMAF=0.0009
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000040016110100
|GENEINFO=BCMO1:53630
|GENE_NAME=BCMO1
|GENE_ID=53630
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.81298282C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605748.0001
|CLNSIG=5
|CLNCUI=C2676023
|CLNDBN=Hypercarotenemia and vitamin a deficiency, autosomal dominant
|Disease=Hypercarotenemia and vitamin a deficiency
|CLNACC=RCV000005038.2
|Tags=PM;S3D;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9991; 0.0009183
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2676023:115300:199285
|COMMON=1
}}