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rs76723693

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 5 G6PD deficiency; Hb1Ac value may need adjusting for diabetes diagnosis
(C;T) 3 Carrier of G6PD deficiency mutation; variable expressivity; Hb1Ac value may need adjusting for diabetes diagnosis
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/142
ChromosomeX
Position154533025
GeneG6PD
is asnp
is mentioned by
dbSNPrs76723693
dbSNP (classic)rs76723693
ClinGenrs76723693
ebirs76723693
HLIrs76723693
Exacrs76723693
Gnomadrs76723693
Varsomers76723693
LitVarrs76723693
Maprs76723693
PheGenIrs76723693
Biobankrs76723693
1000 genomesrs76723693
hgdprs76723693
ensemblrs76723693
geneviewrs76723693
scholarrs76723693
googlers76723693
pharmgkbrs76723693
gwascentralrs76723693
openSNPrs76723693
23andMers76723693
23andMe allrs76723693
SNPshotrs76723693
SNPdbers76723693
MSV3drs76723693
GWAS Ctlgrs76723693
GMAF0.0006046
Max Magnitude5

aka c.968T>C, c.1058T>C, (p.Leu323Pro or L323P)

A 2019 publication reports that this variant also has the effect of lowering HbA1c values by ~0.98%-units in hemizygous men and 0.46%-units in heterozygous women. The authors suggest that when using Hb1Ac values to diagnose type-2 diabetes, those units should be added to the measured Hb1Ac level, and a diagnosis should then be made if the sum is >6.5% (the standard diagnostic threshold).[PMID 31564435OA-icon.png]

OMIM305900
Desc
Variant0028
Relatedalso
ClinVar
Risk Rs76723693(C;C)
Alt Rs76723693(C;C)
Reference Rs76723693(T;T)
Significance Pathogenic
Disease Glucose 6 phosphate dehydrogenase deficiency not provided Anemia
Variation info
Gene G6PD
CLNDBN Glucose 6 phosphate dehydrogenase deficiency not provided Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed 1
HGVS NC_000023.10:g.153761240A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011119.3, RCV000153284.2, RCV000180547.1,