rs137852325

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154532662

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs137852325
dbSNP (classic)	rs137852325
ClinGen	rs137852325
ebi	rs137852325
HLI	rs137852325
Exac	rs137852325
Gnomad	rs137852325
Varsome	rs137852325
LitVar	rs137852325
Map	rs137852325
PheGenI	rs137852325
Biobank	rs137852325
1000 genomes	rs137852325
hgdp	rs137852325
ensembl	rs137852325
geneview	rs137852325
scholar	rs137852325
google	rs137852325
pharmgkb	rs137852325
gwascentral	rs137852325
openSNP	rs137852325
23andMe	rs137852325
SNPshot	rs137852325
SNPdbe	rs137852325
MSV3d	rs137852325
GWAS Ctlg	rs137852325

Max Magnitude

5

aka c.1192G>A, c.1282G>A, (p.Glu398Lys or E398K)

G6PD Puerto Limon

OMIM	305900
Desc
Variant	0022
Related	also

ClinVar
Risk	Rs137852325(A;A)
Alt	Rs137852325(A;A)
Reference	Rs137852325(G;G)
Significance	Other
Disease	G6PD PUERTO LIMON Anemia
Variation	info
Gene	G6PD
CLNDBN	G6PD PUERTO LIMON Anemia, nonspherocytic hemolytic, due to g6pd deficiency
Reversed	1
HGVS	NC_000023.10:g.153760877C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011108.2, RCV000066246.4,