{{Rsnum
|rsid=119480069
|Chromosome=2
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=ABCG5
|position=43824071
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ABCG5,DYNC2LI1
}}{{omim
|id=605459
|rsnum=119480069
|variant=0005
}}{{ClinVar
|rsid=119480069
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=44051210
|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.44051210C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605459.0005
|CLNSIG=5
|CLNCUI=C0342907
|CLNDBN=Sitosterolemia
|Disease=Sitosterolemia
|CLNACC=RCV000005268.1
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK131810:C0342907:210250:2882:238104009
}}