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rs137852346

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
Position154533634
GeneG6PD
is asnp
is mentioned by
dbSNPrs137852346
dbSNP (classic)rs137852346
ClinGenrs137852346
ebirs137852346
HLIrs137852346
Exacrs137852346
Gnomadrs137852346
Varsomers137852346
LitVarrs137852346
Maprs137852346
PheGenIrs137852346
Biobankrs137852346
1000 genomesrs137852346
hgdprs137852346
ensemblrs137852346
geneviewrs137852346
scholarrs137852346
googlers137852346
pharmgkbrs137852346
gwascentralrs137852346
openSNPrs137852346
23andMers137852346
SNPshotrs137852346
SNPdbers137852346
MSV3drs137852346
GWAS Ctlgrs137852346
Max Magnitude5

23andMe name: i6010663

OMIM305900
Desc
Variant0053
Relatedalso
ClinVar
Risk Rs137852346(A;A)
Alt Rs137852346(A;A)
Reference Rs137852346(G;G)
Significance Other
Disease G6PD AVEIRO Anemia
Variation info
Gene G6PD
CLNDBN G6PD AVEIRO Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed 1
HGVS NC_000023.10:g.153761849C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011155.4, RCV000011156.5,