{{Rsnum
|rsid=398122817
|Chromosome=1
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=H6PD
|position=9262261
|Gene_s=H6PD
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=1
|CLNACC=RCV000024292.26
|CLNALLE=1
|CLNDBN=Deficiency of (R)-20-hydroxysteroid dehydrogenase
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C1291245:604931:ORPHA168588:124138004
|CLNHGVS=NC_000001.11:g.9262261C>G
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_004285.3:c.948C>G; 138090.0005
|Disease=Deficiency of (R)-20-hydroxysteroid dehydrogenase
|FwdALT=G
|FwdREF=C
|GENEINFO=H6PD:9563
|GENE_ID=9563
|GENE_NAME=H6PD
|REF=C
|RSPOS=9262261
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;NSN;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000605000002110100
|WGT=1
|dbSNPBuildID=138
|rsid=398122817
|CLNORIGIN=1
}}