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rs137852327

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5 G6PD deficiency
(A;G) 3 Carrier of G6PD deficiency mutation; variable expressivity
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154533122
GeneG6PD
is asnp
is mentioned by
dbSNPrs137852327
dbSNP (classic)rs137852327
ClinGenrs137852327
ebirs137852327
HLIrs137852327
Exacrs137852327
Gnomadrs137852327
Varsomers137852327
LitVarrs137852327
Maprs137852327
PheGenIrs137852327
Biobankrs137852327
1000 genomesrs137852327
hgdprs137852327
ensemblrs137852327
geneviewrs137852327
scholarrs137852327
googlers137852327
pharmgkbrs137852327
gwascentralrs137852327
openSNPrs137852327
23andMers137852327
SNPshotrs137852327
SNPdbers137852327
MSV3drs137852327
GWAS Ctlgrs137852327
Max Magnitude5

23andMe name: i5008436

OMIM305900
Desc
Variant0026
Relatedalso
ClinVar
Risk Rs137852327(A;A)
Alt Rs137852327(A;A)
Reference Rs137852327(G;G)
Significance Other
Disease G6PD VIANGCHAN G6PD JAMMU not provided Anemia Glucose 6 phosphate dehydrogenase deficiency
Variation info
Gene G6PD
CLNDBN G6PD VIANGCHAN G6PD JAMMU not provided Anemia, nonspherocytic hemolytic, due to G6PD deficiency Glucose 6 phosphate dehydrogenase deficiency
Reversed 1
HGVS NC_000023.10:g.153761337C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011116.3, RCV000011117.3, RCV000079415.3, RCV000180545.2, RCV000405688.1,