rs1050757

minus

Geno	Mag	Summary
(A;A)	0	common/normal
(A;G)	0	likely benign (ClinVar)
(G;G)	0	likely benign (ClinVar)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154531643

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs1050757
dbSNP (classic)	rs1050757
ClinGen	rs1050757
ebi	rs1050757
HLI	rs1050757
Exac	rs1050757
Gnomad	rs1050757
Varsome	rs1050757
LitVar	rs1050757
Map	rs1050757
PheGenI	rs1050757
Biobank	rs1050757
1000 genomes	rs1050757
hgdp	rs1050757
ensembl	rs1050757
geneview	rs1050757
scholar	rs1050757
google	rs1050757
pharmgkb	rs1050757
gwascentral	rs1050757
openSNP	rs1050757
23andMe	rs1050757
SNPshot	rs1050757
SNPdbe	rs1050757
MSV3d	rs1050757
GWAS Ctlg	rs1050757

GMAF

0.3108

Max Magnitude

0

[PMID 23389243] 3'-UTR variations and G6PD deficiency

[PMID 18454203 ] Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.

ClinVar
Risk	Rs1050757(G;G)
Alt	Rs1050757(G;G)
Reference	Rs1050757(A;A)
Significance	Probable-non-pathogenic
Disease	Glucose 6 phosphate dehydrogenase deficiency
Variation	info
Gene	G6PD
CLNDBN	Glucose 6 phosphate dehydrogenase deficiency
Reversed	1
HGVS	NC_000023.10:g.153759858T>C
CLNSRC
CLNACC	RCV000293823.1,