{{Rsnum
|rsid=137852993
|Chromosome=2
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=ABCG8
|position=43852483
|Gene_s=ABCG8
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=605460
|variant=0008
|rsnum=137852993
}}{{ClinVar
|rsid=137852993
|Reversed=0
|FwdREF=C
|FwdALT=A
|REF=C
|ALT=A
|RSPOS=44079622
|CHROM=2
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=ABCG8:64241
|GENE_NAME=ABCG8
|GENE_ID=64241
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.44079622C>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605460.0008
|CLNSIG=5
|CLNCUI=C0342907
|CLNDBN=Sitosterolemia
|Disease=Sitosterolemia
|CLNACC=RCV000005262.1
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK131810:C0342907:210250:2882:238104009
}}