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rs74575103

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2 Carrier of a G6PD variant likely to benign
(T;T) 2 Probably benign; slight chance of G6PD deficiency
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position154533586
GeneG6PD
is asnp
is mentioned by
dbSNPrs74575103
dbSNP (classic)rs74575103
ClinGenrs74575103
ebirs74575103
HLIrs74575103
Exacrs74575103
Gnomadrs74575103
Varsomers74575103
LitVarrs74575103
Maprs74575103
PheGenIrs74575103
Biobankrs74575103
1000 genomesrs74575103
hgdprs74575103
ensemblrs74575103
geneviewrs74575103
scholarrs74575103
googlers74575103
pharmgkbrs74575103
gwascentralrs74575103
openSNPrs74575103
23andMers74575103
23andMe allrs74575103
SNPshotrs74575103
SNPdbers74575103
MSV3drs74575103
GWAS Ctlgrs74575103
Max Magnitude2

aka c.944G>A (p.Arg315His, R315H)

Annotated in ClinVar as benign; described in OMIM as having "nearly normal properties"

23andMe name: i5053909

FTDNA & MyHeritage name: VGXS34738

OMIM305900
Desc
Variant0016
Relatedalso
ClinVar
Risk Rs74575103(T;T)
Alt Rs74575103(T;T)
Reference Rs74575103(C;C)
Significance Non-pathogenic
Disease Glucose 6 phosphate dehydrogenase deficiency
Variation info
Gene G6PD
CLNDBN Glucose 6 phosphate dehydrogenase deficiency
Reversed 0
HGVS NC_000023.10:g.153761801C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011080.3,