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rs5030869

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
Position154532990
GeneG6PD
is asnp
is mentioned by
dbSNPrs5030869
dbSNP (old)rs5030869
ClinGenrs5030869
ebirs5030869
HLIrs5030869
Exacrs5030869
Gnomadrs5030869
Varsomers5030869
Maprs5030869
PheGenIrs5030869
Biobankrs5030869
1000 genomesrs5030869
hgdprs5030869
ensemblrs5030869
gopubmedrs5030869
geneviewrs5030869
scholarrs5030869
googlers5030869
pharmgkbrs5030869
gwascentralrs5030869
openSNPrs5030869
23andMers5030869
23andMe allrs5030869
SNP Nexus

SNPshotrs5030869
SNPdbers5030869
MSV3drs5030869
GWAS Ctlgrs5030869
Max Magnitude5
23andMe name: i3003411
OMIM305900
Desc
Variant0003
Relatedalso
ClinVar
Risk Rs5030869(A;A)
Alt Rs5030869(A;A)
Reference Rs5030869(G;G)
Significance Other
Disease G6PD CHATHAM not provided Anemia
Variation info
Gene G6PD
CLNDBN G6PD CHATHAM not provided Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed 1
HGVS NC_000023.10:g.153761205C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011081.4, RCV000153283.2, RCV000180546.1,