rs137852347

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154533029

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs137852347
dbSNP (classic)	rs137852347
ClinGen	rs137852347
ebi	rs137852347
HLI	rs137852347
Exac	rs137852347
Gnomad	rs137852347
Varsome	rs137852347
LitVar	rs137852347
Map	rs137852347
PheGenI	rs137852347
Biobank	rs137852347
1000 genomes	rs137852347
hgdp	rs137852347
ensembl	rs137852347
geneview	rs137852347
scholar	rs137852347
google	rs137852347
pharmgkb	rs137852347
gwascentral	rs137852347
openSNP	rs137852347
23andMe	rs137852347
SNPshot	rs137852347
SNPdbe	rs137852347
MSV3d	rs137852347
GWAS Ctlg	rs137852347

Max Magnitude

5

OMIM	305900
Desc
Variant	0055
Related	also

ClinVar
Risk	Rs137852347(C;C)
Alt	Rs137852347(C;C)
Reference	Rs137852347(T;T)
Significance	Other
Disease	G6PD REHOVOT Anemia
Variation	info
Gene	G6PD
CLNDBN	G6PD REHOVOT Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed	1
HGVS	NC_000023.10:g.153761244A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011158.4, RCV000066276.7,