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rs137852314

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
Position154534495
GeneG6PD
is asnp
is mentioned by
dbSNPrs137852314
dbSNP (classic)rs137852314
ClinGenrs137852314
ebirs137852314
HLIrs137852314
Exacrs137852314
Gnomadrs137852314
Varsomers137852314
LitVarrs137852314
Maprs137852314
PheGenIrs137852314
Biobankrs137852314
1000 genomesrs137852314
hgdprs137852314
ensemblrs137852314
geneviewrs137852314
scholarrs137852314
googlers137852314
pharmgkbrs137852314
gwascentralrs137852314
openSNPrs137852314
23andMers137852314
SNPshotrs137852314
SNPdbers137852314
MSV3drs137852314
GWAS Ctlgrs137852314
Max Magnitude5

23andMe name: i5008421

OMIM305900
Desc
Variant0005
Relatedalso
ClinVar
Risk Rs137852314(A;A)
Alt Rs137852314(A;A)
Reference Rs137852314(G;G)
Significance Other
Disease G6PD MAHIDOL Anemia
Variation info
Gene G6PD
CLNDBN G6PD MAHIDOL Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed 1
HGVS NC_000023.10:g.153762710C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011085.3, RCV000282708.1,