rs137852332

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154534389

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs137852332
dbSNP (classic)	rs137852332
ClinGen	rs137852332
ebi	rs137852332
HLI	rs137852332
Exac	rs137852332
Gnomad	rs137852332
Varsome	rs137852332
LitVar	rs137852332
Map	rs137852332
PheGenI	rs137852332
Biobank	rs137852332
1000 genomes	rs137852332
hgdp	rs137852332
ensembl	rs137852332
geneview	rs137852332
scholar	rs137852332
google	rs137852332
pharmgkb	rs137852332
gwascentral	rs137852332
openSNP	rs137852332
23andMe	rs137852332
SNPshot	rs137852332
SNPdbe	rs137852332
MSV3d	rs137852332
GWAS Ctlg	rs137852332

Max Magnitude

5

23andMe name: i6010578

OMIM	305900
Desc
Variant	0034
Related	also

OMIM	305900
Desc
Variant	0062
Related	also

ClinVar
Risk	Rs137852332(A;A) Rs137852332(C;C)
Alt	Rs137852332(A;A) Rs137852332(C;C)
Reference	Rs137852332(G;G)
Significance	Other
Disease	G6PD SANTIAGO Anemia G6PD NILGIRI
Variation	info
Gene	G6PD
CLNDBN	G6PD SANTIAGO Anemia, nonspherocytic hemolytic, due to G6PD deficiency G6PD NILGIRI
Reversed	1
HGVS	NC_000023.10:g.153762604C>G; NC_000023.10:g.153762604C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011129.3, RCV000011130.4, RCV000011161.2,