rs72554665

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	5	G6PD deficiency
(C;G)	3	Carrier of G6PD deficiency mutation; variable expressivity
(G;G)	0	common in clinvar
(G;T)	3	Carrier of G6PD deficiency mutation; variable expressivity
(T;T)	5	G6PD deficiency

Reference

GRCh38 38.1/142

Chromosome

X

Position

154532269

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs72554665
dbSNP (classic)	rs72554665
ClinGen	rs72554665
ebi	rs72554665
HLI	rs72554665
Exac	rs72554665
Gnomad	rs72554665
Varsome	rs72554665
LitVar	rs72554665
Map	rs72554665
PheGenI	rs72554665
Biobank	rs72554665
1000 genomes	rs72554665
hgdp	rs72554665
ensembl	rs72554665
geneview	rs72554665
scholar	rs72554665
google	rs72554665
pharmgkb	rs72554665
gwascentral	rs72554665
openSNP	rs72554665
23andMe	rs72554665
SNPshot	rs72554665
SNPdbe	rs72554665
MSV3d	rs72554665
GWAS Ctlg	rs72554665

GMAF

0.0006046

Max Magnitude

5

23andMe name (for the G>T variant): i5012739

OMIM	305900
Desc
Variant	0021
Related	also

OMIM	305900
Desc
Variant	0059
Related	also

ClinVar
Risk	rs72554665(A;A) Rs72554665(C;C) Rs72554665(T;T)
Alt	rs72554665(A;A) Rs72554665(C;C) Rs72554665(T;T)
Reference	Rs72554665(G;G)
Significance	Other
Disease	G6PD CANTON G6PD GIFU G6PD AGRIGENTO G6PD TAIWAN-HAKKA not provided Anemia Glucose 6 phosphate dehydrogenase deficiency G6PD COSENZA
Variation	info
Gene	G6PD
CLNDBN	G6PD CANTON G6PD GIFU G6PD AGRIGENTO G6PD TAIWAN-HAKKA not provided Anemia, nonspherocytic hemolytic, due to G6PD deficiency Glucose 6 phosphate dehydrogenase deficiency G6PD COSENZA
Reversed	1
HGVS	NC_000023.10:g.153760484C>A; NC_000023.10:g.153760484C>G
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000011104.7, RCV000011105.7, RCV000011106.7, RCV000011107.7, RCV000079398.3, RCV000174272.2, RCV000375428.1, RCV000011167.2, RCV000354491.1,