rs76723693

minus

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

Reference

GRCh38 38.1/142

Chromosome

X

Position

154533025

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs76723693
dbSNP (classic)	rs76723693
ClinGen	rs76723693
ebi	rs76723693
HLI	rs76723693
Exac	rs76723693
Gnomad	rs76723693
Varsome	rs76723693
LitVar	rs76723693
Map	rs76723693
PheGenI	rs76723693
Biobank	rs76723693
1000 genomes	rs76723693
hgdp	rs76723693
ensembl	rs76723693
geneview	rs76723693
scholar	rs76723693
google	rs76723693
pharmgkb	rs76723693
gwascentral	rs76723693
openSNP	rs76723693
23andMe	rs76723693
SNPshot	rs76723693
SNPdbe	rs76723693
MSV3d	rs76723693
GWAS Ctlg	rs76723693

GMAF

0.0006046

Max Magnitude

5

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 31564435 ]

OMIM	305900
Desc
Variant	0028
Related	also

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,