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rs6688832

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs6688832(A;A)
Make rs6688832(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position9263851
GeneH6PD
is asnp
is mentioned by
dbSNPrs6688832
ebirs6688832
HLIrs6688832
Exacrs6688832
Varsomers6688832
Maprs6688832
PheGenIrs6688832
hapmaprs6688832
1000 genomesrs6688832
hgdprs6688832
ensemblrs6688832
gopubmedrs6688832
geneviewrs6688832
scholarrs6688832
googlers6688832
pharmgkbrs6688832
gwascentralrs6688832
openSNPrs6688832
23andMers6688832
23andMe allrs6688832
SNP Nexus

SNPshotrs6688832
SNPdbers6688832
MSV3drs6688832
GWAS Ctlgrs6688832
GMAF0.3636
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM138090
Desc
Variant0002
Relatedalso


ClinVar
Risk rs6688832(A,C;A,C)
Alt rs6688832(A,C;A,C)
Reference rs6688832(G;G)
Significance Unknown
Disease Cortisone reductase deficiency 1
Variation info
Gene H6PD
CLNDBN Cortisone reductase deficiency 1
Reversed 0
HGVS NC_000001.10:g.9323910G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017511.2,



[PMID 16817821] Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.


[PMID 18288507OA-icon.png] Structural genomic variation in ischemic stroke.


[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.


[PMID 22306327] The R453Q and D151A polymorphisms of hexose-6-phosphate dehydrogenase gene (H6PD) influence the polycystic ovary syndrome (PCOS) and obesity.


GET Evidence
H6PD-R453Q
aa_change Arg453Gln
aa_change_short R453Q
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.308886
summary 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).