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rs137852335

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 5 G6PD deficiency
(C;G) 3 Carrier of G6PD deficiency mutation; variable expressivity
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154532674
GeneG6PD
is asnp
is mentioned by
dbSNPrs137852335
dbSNP (classic)rs137852335
ClinGenrs137852335
ebirs137852335
HLIrs137852335
Exacrs137852335
Gnomadrs137852335
Varsomers137852335
LitVarrs137852335
Maprs137852335
PheGenIrs137852335
Biobankrs137852335
1000 genomesrs137852335
hgdprs137852335
ensemblrs137852335
geneviewrs137852335
scholarrs137852335
googlers137852335
pharmgkbrs137852335
gwascentralrs137852335
openSNPrs137852335
23andMers137852335
SNPshotrs137852335
SNPdbers137852335
MSV3drs137852335
GWAS Ctlgrs137852335
Max Magnitude5

23andMe name: i6010592

OMIM305900
Desc
Variant0038
Relatedalso
ClinVar
Risk Rs137852335(C;C)
Alt Rs137852335(C;C)
Reference Rs137852335(G;G)
Significance Other
Disease G6PD ALHAMBRA Anemia
Variation info
Gene G6PD
CLNDBN G6PD ALHAMBRA Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed 1
HGVS NC_000023.10:g.153760889C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011134.3, RCV000011135.6,