{{Rsnum
|rsid=121918440
|Chromosome=7
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ABCB4
|position=87411948
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ABCB4
}}{{omim
|id=171060
|rsnum=121918440
|variant=0002
}}{{ClinVar
|rsid=121918440
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=87041264
|CHROM=7
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=ABCB4:5244
|GENE_NAME=ABCB4
|GENE_ID=5244
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.87041264G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=171060.0002
|CLNSIG=5
|CLNCUI=C1865643; C0268318
|CLNDBN=Progressive familial intrahepatic cholestasis 3; Cholestasis, intrahepatic, of pregnancy 3
|Disease=Progressive familial intrahepatic cholestasis 3; Cholestasis
|CLNACC=RCV000014683.24; RCV000033063.23
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1865643:602347:79305; CN162977:614972:69665
}}