rs5030872

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

X

Position

154534440

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs5030872
dbSNP (classic)	rs5030872
ClinGen	rs5030872
ebi	rs5030872
HLI	rs5030872
Exac	rs5030872
Gnomad	rs5030872
Varsome	rs5030872
LitVar	rs5030872
Map	rs5030872
PheGenI	rs5030872
Biobank	rs5030872
1000 genomes	rs5030872
hgdp	rs5030872
ensembl	rs5030872
geneview	rs5030872
scholar	rs5030872
google	rs5030872
pharmgkb	rs5030872
gwascentral	rs5030872
openSNP	rs5030872
23andMe	rs5030872
SNPshot	rs5030872
SNPdbe	rs5030872
MSV3d	rs5030872
GWAS Ctlg	rs5030872

Max Magnitude

5

OMIM	305900
Desc
Variant	0023
Related	also

OMIM	305900
Desc
Variant	0049
Related	also

ClinVar
Risk	Rs5030872(T;T)
Alt	Rs5030872(T;T)
Reference	Rs5030872(A;A)
Significance	Other
Disease	G6PD SANTAMARIA G6PD MALAGA not provided Anemia
Variation	info
Gene	G6PD
CLNDBN	G6PD SANTAMARIA G6PD MALAGA not provided Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed	1
HGVS	NC_000023.10:g.153762655T>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000011109.3, RCV000030892.4, RCV000079407.3, RCV000179364.1,