{{Rsnum
|rsid=137854891
|Chromosome=2
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=ABCG8
|position=43846309
|Gene_s=ABCG8
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=137854891
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=44073448
|CHROM=2
|dbSNPBuildID=133
|SSR=0
|SAO=0
|VP=0x050268000000000002110100
|GENEINFO=ABCG8:64241
|GENE_NAME=ABCG8
|GENE_ID=64241
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.44073448C>G
|CLNSIG=5
|CLNCUI=210250
|CLNDBN=Sitosterolemia
|Tags=PM;PMC;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000032718.1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK131810:C0342907:210250:2882:238104009
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=605460.0010
|Disease=Sitosterolemia
}}{{PMID Auto
|PMID=15375183
|Title=Phenotypic heterogeneity of sitosterolemia.
}}