{{Rsnum
|rsid=28931608
|Gene=POR
|Chromosome=7
|position=75985179
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=POR
}}{{omim
|desc=POR DEFICIENCY
|id=124015
|rsnum=28931608
|variant=0005
}}
{{ neighbor
| rsid = 28931606
| distance = 476
}}

{{ClinVar
|rsid=28931608
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=75614497
|CHROM=7
|GMAF=0.0005
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050360000000040116110100
|GENEINFO=POR:5447
|GENE_NAME=POR
|GENE_ID=5447
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.75614497G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=124015.0005
|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=RCV000018406.26; RCV000018407.26
|Tags=PM;S3D;SLO;VLD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1419:C1860042:201750; NBK1419:C2673964:613571:418
|COMMON=0
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}