rs137852316

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

154532676

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs137852316
dbSNP (classic)	rs137852316
ClinGen	rs137852316
ebi	rs137852316
HLI	rs137852316
Exac	rs137852316
Gnomad	rs137852316
Varsome	rs137852316
LitVar	rs137852316
Map	rs137852316
PheGenI	rs137852316
Biobank	rs137852316
1000 genomes	rs137852316
hgdp	rs137852316
ensembl	rs137852316
geneview	rs137852316
scholar	rs137852316
google	rs137852316
pharmgkb	rs137852316
gwascentral	rs137852316
openSNP	rs137852316
23andMe	rs137852316
SNPshot	rs137852316
SNPdbe	rs137852316
MSV3d	rs137852316
GWAS Ctlg	rs137852316

Max Magnitude

5

23andMe name: i5008423

OMIM	305900
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs137852316(A;A)
Alt	Rs137852316(A;A)
Reference	Rs137852316(G;G)
Significance	Other
Disease	G6PD PORTICI G6PD NASHVILLE G6PD ANAHEIM Anemia
Variation	info
Gene	G6PD
CLNDBN	G6PD PORTICI G6PD NASHVILLE G6PD ANAHEIM Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed	1
HGVS	NC_000023.10:g.153760891C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011090.2, RCV000030890.3, RCV000030891.3, RCV000066231.7,