{{Rsnum
|rsid=119479066
|Chromosome=2
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ABCG5
|position=43826429
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ABCG5,DYNC2LI1
}}{{omim
|id=605459
|rsnum=119479066
|variant=0002
}}{{ClinVar
|rsid=119479066
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=44053568
|CHROM=2
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=ABCG5:64240
|GENE_NAME=ABCG5
|GENE_ID=64240
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.44053568G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605459.0002
|CLNSIG=5
|CLNCUI=C0342907
|CLNDBN=Sitosterolemia
|Disease=Sitosterolemia
|CLNACC=RCV000005265.1
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK131810:C0342907:210250:2882:238104009
}}