{{Rsnum
|rsid=199689137
|Gene=ABCG5
|Chromosome=2
|position=43822924
|Orientation=plus
|GMAF=0.0004591
|Gene_s=ABCG5
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ClinVar
|ALT=A
|CAF=0.9995; 0.0004591
|CHROM=2
|CLNACC=RCV000023442.1
|CLNALLE=1
|CLNDBN=Sitosterolemia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK131810:C0342907:210250:2882:238104009
|CLNHGVS=NC_000002.11:g.44050063G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=605459.0008
|COMMON=0
|Disease=Sitosterolemia
|FwdALT=A
|FwdREF=G
|GENEINFO=ABCG5:64240
|GENE_ID=64240
|GENE_NAME=ABCG5
|REF=G
|RSPOS=44050063
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000016110100
|WGT=0
|dbSNPBuildID=137
|rsid=199689137
}}