rs72554664

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 38.1/142

Chromosome

X

Position

154532257

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs72554664
dbSNP (classic)	rs72554664
ClinGen	rs72554664
ebi	rs72554664
HLI	rs72554664
Exac	rs72554664
Gnomad	rs72554664
Varsome	rs72554664
LitVar	rs72554664
Map	rs72554664
PheGenI	rs72554664
Biobank	rs72554664
1000 genomes	rs72554664
hgdp	rs72554664
ensembl	rs72554664
geneview	rs72554664
scholar	rs72554664
google	rs72554664
pharmgkb	rs72554664
gwascentral	rs72554664
openSNP	rs72554664
23andMe	rs72554664
SNPshot	rs72554664
SNPdbe	rs72554664
MSV3d	rs72554664
GWAS Ctlg	rs72554664

Max Magnitude

5

OMIM	305900
Desc
Variant	0029
Related	also

ClinVar
Risk	Rs72554664(A;A)
Alt	Rs72554664(A;A)
Reference	Rs72554664(G;G)
Significance	Other
Disease	G6PD KAIPING G6PD ANANT G6PD DHON G6PD PETRICH-LIKE G6PD SAPPORO-LIKE not provided Anemia
Variation	info
Gene	G6PD
CLNDBN	G6PD KAIPING G6PD ANANT G6PD DHON G6PD PETRICH-LIKE G6PD SAPPORO-LIKE not provided Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed	1
HGVS	NC_000023.10:g.153760472C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000011120.3, RCV000011121.3, RCV000011122.3, RCV000011123.3, RCV000011124.3, RCV000079399.3, RCV000174271.1,