rs137852339

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

154533044

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs137852339
dbSNP (classic)	rs137852339
ClinGen	rs137852339
ebi	rs137852339
HLI	rs137852339
Exac	rs137852339
Gnomad	rs137852339
Varsome	rs137852339
LitVar	rs137852339
Map	rs137852339
PheGenI	rs137852339
Biobank	rs137852339
1000 genomes	rs137852339
hgdp	rs137852339
ensembl	rs137852339
geneview	rs137852339
scholar	rs137852339
google	rs137852339
pharmgkb	rs137852339
gwascentral	rs137852339
openSNP	rs137852339
23andMe	rs137852339
SNPshot	rs137852339
SNPdbe	rs137852339
MSV3d	rs137852339
GWAS Ctlg	rs137852339

Max Magnitude

5

aka c.949G>A, c.1039G>A, (p.Glu317Lys or E317K)

G6PD Kerala-Kalyan

23andMe name: i5008450

OMIM	305900
Desc
Variant	0042
Related	also

ClinVar
Risk	Rs137852339(A;A)
Alt	Rs137852339(A;A)
Reference	Rs137852339(G;G)
Significance	Other
Disease	G6PD KERALA-KALYAN G6PD KERALA G6PD KALYAN
Variation	info
Gene	G6PD
CLNDBN	G6PD KERALA-KALYAN G6PD KERALA G6PD KALYAN
Reversed	1
HGVS	NC_000023.10:g.153761259C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011142.1, RCV000011143.1, RCV000011144.1,