rs587776453

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs587776453(-;-)

Make rs587776453(-;G)

Reference

GRCh38 38.1/142

Chromosome

X

Position

48791330

Gene

GATA1

is a	snp
is	mentioned by
dbSNP	rs587776453
dbSNP (classic)	rs587776453
ClinGen	rs587776453
ebi	rs587776453
HLI	rs587776453
Exac	rs587776453
Gnomad	rs587776453
Varsome	rs587776453
LitVar	rs587776453
Map	rs587776453
PheGenI	rs587776453
Biobank	rs587776453
1000 genomes	rs587776453
hgdp	rs587776453
ensembl	rs587776453
geneview	rs587776453
scholar	rs587776453
google	rs587776453
pharmgkb	rs587776453
gwascentral	rs587776453
openSNP	rs587776453
23andMe	rs587776453
SNPshot	rs587776453
SNPdbe	rs587776453
MSV3d	rs587776453
GWAS Ctlg	rs587776453

Max Magnitude

0

ClinVar
Risk	rs587776453(-;-)
Alt	rs587776453(-;-)
Reference	Rs587776453(G;G)
Significance	Pathogenic
Disease	GATA-1-related thrombocytopenia with dyserythropoiesis
Variation	info
Gene	GATA1
CLNDBN	GATA-1-related thrombocytopenia with dyserythropoiesis
Reversed	0
HGVS	NC_000023.10:g.48649737delG
CLNSRC	ClinVar
CLNACC	RCV000144254.2,