{{Rsnum
|rsid=121912976
|Chromosome=7
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=POR
|position=75985795
|Gene_s=POR
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=124015
|rsnum=121912976
|variant=0016
}}{{ClinVar
|rsid=121912976
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=75615113
|CHROM=7
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=POR:5447
|GENE_NAME=POR
|GENE_ID=5447
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.75615113G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=124015.0016
|CLNSIG=5
|CLNCUI=C1860042; C2673964
|CLNDBN=Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
|Disease=Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
|CLNACC=RCV000018415.26; RCV000018416.26
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1419:C1860042:201750; NBK1419:C2673964:613571:418
}}