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rs137852320

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of G6PD deficiency mutation; variable expressivity
(G;G) 5 G6PD deficiency
ReferenceGRCh38 38.1/141
ChromosomeX
Position154532698
GeneG6PD
is asnp
is mentioned by
dbSNPrs137852320
dbSNP (classic)rs137852320
ClinGenrs137852320
ebirs137852320
HLIrs137852320
Exacrs137852320
Gnomadrs137852320
Varsomers137852320
LitVarrs137852320
Maprs137852320
PheGenIrs137852320
Biobankrs137852320
1000 genomesrs137852320
hgdprs137852320
ensemblrs137852320
geneviewrs137852320
scholarrs137852320
googlers137852320
pharmgkbrs137852320
gwascentralrs137852320
openSNPrs137852320
23andMers137852320
SNPshotrs137852320
SNPdbers137852320
MSV3drs137852320
GWAS Ctlgrs137852320
Max Magnitude5

23andMe name: i5008428

OMIM305900
Desc
Variant0012
Relatedalso
ClinVar
Risk Rs137852320(G;G)
Alt Rs137852320(G;G)
Reference Rs137852320(A;A)
Significance Other
Disease G6PD IOWA G6PD IOWA CITY G6PD SPRINGFIELD G6PD WALTER REED Anemia
Variation info
Gene G6PD
CLNDBN G6PD IOWA G6PD IOWA CITY G6PD SPRINGFIELD G6PD WALTER REED Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed 1
HGVS NC_000023.10:g.153760913T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011096.2, RCV000011097.2, RCV000011098.2, RCV000011099.2, RCV000294855.1,