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rs137852331

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
Position154534489
GeneG6PD
is asnp
is mentioned by
dbSNPrs137852331
dbSNP (classic)rs137852331
ClinGenrs137852331
ebirs137852331
HLIrs137852331
Exacrs137852331
Gnomadrs137852331
Varsomers137852331
LitVarrs137852331
Maprs137852331
PheGenIrs137852331
Biobankrs137852331
1000 genomesrs137852331
hgdprs137852331
ensemblrs137852331
geneviewrs137852331
scholarrs137852331
googlers137852331
pharmgkbrs137852331
gwascentralrs137852331
openSNPrs137852331
23andMers137852331
SNPshotrs137852331
SNPdbers137852331
MSV3drs137852331
GWAS Ctlgrs137852331
Max Magnitude5

23andMe name: i5008443

OMIM305900
Desc
Variant0033
Relatedalso
ClinVar
Risk Rs137852331(G;G)
Alt Rs137852331(G;G)
Reference Rs137852331(A;A)
Significance Other
Disease G6PD TAIWAN-HAKKA 2 Favism Anemia
Variation info
Gene G6PD
CLNDBN G6PD TAIWAN-HAKKA 2 Favism, susceptibility to Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed 1
HGVS NC_000023.10:g.153762704T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011128.1, RCV000179361.1, RCV000179362.1,