{{Rsnum
|rsid=267606650
|Chromosome=7
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=AKR1D1
|position=138107506
|Gene_s=AKR1D1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=7
|CLNACC=RCV000005709.1
|CLNALLE=1
|CLNDBN=Bile acid synthesis defect, congenital, 2
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1856127:235555:79303
|CLNHGVS=NC_000007.13:g.137792252C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=604741.0005
|Disease=Bile acid synthesis defect
|FwdALT=T
|FwdREF=C
|GENEINFO=AKR1D1:6718
|GENE_ID=6718
|GENE_NAME=AKR1D1
|REF=C
|RSPOS=137792252
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;S3D;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267606650
}}