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rs137852326

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of G6PD deficiency mutation; variable expressivity
(T;T) 5 G6PD deficiency
ReferenceGRCh38 38.1/141
ChromosomeX
Position154534345
GeneG6PD
is asnp
is mentioned by
dbSNPrs137852326
dbSNP (classic)rs137852326
ClinGenrs137852326
ebirs137852326
HLIrs137852326
Exacrs137852326
Gnomadrs137852326
Varsomers137852326
LitVarrs137852326
Maprs137852326
PheGenIrs137852326
Biobankrs137852326
1000 genomesrs137852326
hgdprs137852326
ensemblrs137852326
geneviewrs137852326
scholarrs137852326
googlers137852326
pharmgkbrs137852326
gwascentralrs137852326
openSNPrs137852326
23andMers137852326
SNPshotrs137852326
SNPdbers137852326
MSV3drs137852326
GWAS Ctlgrs137852326
Max Magnitude5
OMIM305900
Desc
Variant0024
Relatedalso
ClinVar
Risk rs137852326(C;C) Rs137852326(T;T)
Alt rs137852326(C;C) Rs137852326(T;T)
Reference Rs137852326(G;G)
Significance Other
Disease G6PD GASTONIA G6PD MARION G6PD MINNESOTA Anemia not provided
Variation info
Gene G6PD
CLNDBN G6PD GASTONIA G6PD MARION G6PD MINNESOTA Anemia, nonspherocytic hemolytic, due to G6PD deficiency not provided
Reversed 1
HGVS NC_000023.10:g.153762560C>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011110.3, RCV000011111.3, RCV000011112.3, RCV000066251.6, RCV000079410.3,