{{Rsnum
|rsid=267606649
|Chromosome=7
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=AKR1D1
|position=138097885
|Gene_s=AKR1D1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=7
|CLNACC=RCV000005708.1
|CLNALLE=1
|CLNDBN=Bile acid synthesis defect, congenital, 2
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1856127:235555:79303
|CLNHGVS=NC_000007.13:g.137782631C>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=604741.0004
|Disease=Bile acid synthesis defect
|FwdALT=G
|FwdREF=C
|GENEINFO=AKR1D1:6718
|GENE_ID=6718
|GENE_NAME=AKR1D1
|REF=C
|RSPOS=137782631
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;S3D;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267606649
}}