rs78478128

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154536168

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs78478128
dbSNP (classic)	rs78478128
ClinGen	rs78478128
ebi	rs78478128
HLI	rs78478128
Exac	rs78478128
Gnomad	rs78478128
Varsome	rs78478128
LitVar	rs78478128
Map	rs78478128
PheGenI	rs78478128
Biobank	rs78478128
1000 genomes	rs78478128
hgdp	rs78478128
ensembl	rs78478128
geneview	rs78478128
scholar	rs78478128
google	rs78478128
pharmgkb	rs78478128
gwascentral	rs78478128
openSNP	rs78478128
23andMe	rs78478128
SNPshot	rs78478128
SNPdbe	rs78478128
MSV3d	rs78478128
GWAS Ctlg	rs78478128

Max Magnitude

5

aka c.221C>G, p.Ala74Gly and A74G; G6PD Orissa (found originally in certain tribal populations in India)

23andMe name: i5008455

OMIM	305900
Desc
Variant	0047
Related	also

ClinVar
Risk	Rs78478128(C;C)
Alt	Rs78478128(C;C)
Reference	Rs78478128(G;G)
Significance	Other
Disease	G6PD ORISSA
Variation	info
Gene	G6PD
CLNDBN	G6PD ORISSA
Reversed	0
HGVS	NC_000023.10:g.153764383G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011149.1,