rs78365220

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

X

Position

154535270

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs78365220
dbSNP (classic)	rs78365220
ClinGen	rs78365220
ebi	rs78365220
HLI	rs78365220
Exac	rs78365220
Gnomad	rs78365220
Varsome	rs78365220
LitVar	rs78365220
Map	rs78365220
PheGenI	rs78365220
Biobank	rs78365220
1000 genomes	rs78365220
hgdp	rs78365220
ensembl	rs78365220
geneview	rs78365220
scholar	rs78365220
google	rs78365220
pharmgkb	rs78365220
gwascentral	rs78365220
openSNP	rs78365220
23andMe	rs78365220
SNPshot	rs78365220
SNPdbe	rs78365220
MSV3d	rs78365220
GWAS Ctlg	rs78365220

Max Magnitude

5

aka c.383T>C, c.473T>C, (p.Leu128Pro or L128P)

ClinVar
Risk	Rs78365220(C;C)
Alt	Rs78365220(C;C)
Reference	Rs78365220(T;T)
Significance	Pathogenic
Disease	not provided Anemia
Variation	info
Gene	G6PD
CLNDBN	not provided Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed	1
HGVS	NC_000023.10:g.153763485A>G
CLNSRC	HGMD
CLNACC	RCV000079406.3, RCV000178824.1,