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rs137852342

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of G6PD deficiency mutation; variable expressivity
(T;T) 5 G6PD deficiency
ReferenceGRCh38 38.1/141
ChromosomeX
Position154532969
GeneG6PD
is asnp
is mentioned by
dbSNPrs137852342
dbSNP (classic)rs137852342
ClinGenrs137852342
ebirs137852342
HLIrs137852342
Exacrs137852342
Gnomadrs137852342
Varsomers137852342
LitVarrs137852342
Maprs137852342
PheGenIrs137852342
Biobankrs137852342
1000 genomesrs137852342
hgdprs137852342
ensemblrs137852342
geneviewrs137852342
scholarrs137852342
googlers137852342
pharmgkbrs137852342
gwascentralrs137852342
openSNPrs137852342
23andMers137852342
SNPshotrs137852342
SNPdbers137852342
MSV3drs137852342
GWAS Ctlgrs137852342
Max Magnitude5

23andMe name: i5008454

OMIM305900
Desc
Variant0046
Relatedalso
ClinVar
Risk Rs137852342(T;T)
Alt Rs137852342(T;T)
Reference Rs137852342(C;C)
Significance Other
Disease G6PD MAHIDOL-LIKE not specified
Variation info
Gene G6PD
CLNDBN G6PD MAHIDOL-LIKE not specified
Reversed 1
HGVS NC_000023.10:g.153761184G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011148.1, RCV000079389.4,