rs398123546

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154532390

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs398123546
dbSNP (classic)	rs398123546
ClinGen	rs398123546
ebi	rs398123546
HLI	rs398123546
Exac	rs398123546
Gnomad	rs398123546
Varsome	rs398123546
LitVar	rs398123546
Map	rs398123546
PheGenI	rs398123546
Biobank	rs398123546
1000 genomes	rs398123546
hgdp	rs398123546
ensembl	rs398123546
geneview	rs398123546
scholar	rs398123546
google	rs398123546
pharmgkb	rs398123546
gwascentral	rs398123546
openSNP	rs398123546
23andMe	rs398123546
SNPshot	rs398123546
SNPdbe	rs398123546
MSV3d	rs398123546
GWAS Ctlg	rs398123546

Max Magnitude

5

aka c.1360C>T, c.1450C>T (p.Arg484Cys or R484C)

ClinVar
Risk	Rs398123546(T;T)
Alt	Rs398123546(T;T)
Reference	Rs398123546(C;C)
Significance	Pathogenic
Disease	not provided Favism Anemia
Variation	info
Gene	G6PD
CLNDBN	not provided Favism, susceptibility to Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed	1
HGVS	NC_000023.10:g.153760605G>A
CLNSRC	HGMD
CLNACC	RCV000079396.4, RCV000174031.1, RCV000174032.1,