{{Rsnum
|rsid=6688832
|Gene=H6PD
|Chromosome=1
|position=9263851
|Orientation=plus
|GMAF=0.3636
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=H6PD
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 6.2 | 33.6 | 60.2
| HCB | 21.2 | 53.3 | 25.5
| JPT | 16.8 | 56.6 | 26.5
| YRI | 26.0 | 50.7 | 23.3
| ASW | 29.8 | 43.9 | 26.3
| CHB | 21.2 | 53.3 | 25.5
| CHD | 26.6 | 39.4 | 33.9
| GIH | 15.0 | 41.0 | 44.0
| LWK | 14.5 | 50.9 | 34.5
| MEX | 10.3 | 51.7 | 37.9
| MKK | 18.6 | 51.9 | 29.5
| TSI | 11.8 | 41.2 | 47.1
| HapMapRevision=28
}}{{omim
|id=138090
|rsnum=6688832
|variant=0002
}}

{{ClinVar
|rsid=6688832
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=9263851
|CHROM=1
|GMAF=0.364
|dbSNPBuildID=116
|SSR=0
|SAO=1
|VP=0x050368000a0515051f110101
|GENEINFO=H6PD:9563
|GENE_NAME=H6PD
|GENE_ID=9563
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.9263851G>A
|CLNORIGIN=1
|Tags=PM;PMC;S3D;SLO;NSM;REF;ASP;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CLNACC=RCV000017511.1
|CLNDBN=Deficiency of (R)-20-hydroxysteroid dehydrogenase
|CAF=0.6364; 0.3636
|CLNSRC=ClinVar; OMIM Allelic Variant
|COMMON=1
|Disease=Deficiency of (R)-20-hydroxysteroid dehydrogenase
|CLNSRCID=NM_004285.3:c.1358G>A; 138090.0002
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C1291245:604931:ORPHA168588:124138004
}}

{{PMID Auto
|PMID=16817821
|Title=Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.
}}

{{PMID Auto
|PMID=18288507
|Title=Structural genomic variation in ischemic stroke.
|OA=1
}}

{{PMID Auto
|PMID=18603647
|Title=Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
|OA=1
}}

{{PMID Auto
|PMID=22306327
|Title=The R453Q and D151A polymorphisms of hexose-6-phosphate dehydrogenase gene (H6PD) influence the polycystic ovary syndrome (PCOS) and obesity.
}}

{{GET Evidence
|gene=H6PD
|aa_change=Arg453Gln
|aa_change_short=R453Q
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs6688832
|overall_frequency_n=3323
|overall_frequency_d=10758
|overall_frequency=0.308886
|n_genomes=31
|n_genomes_annotated=0
|n_haplomes=39
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=3
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=3
|in_omim=Y
|pph2_score=0.004
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=4
|webscore=N
|variant_evidence=0
|clinical_importance=0
|summary_short=This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}