rs587776452

Orientation

plus

Stabilized

plus

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

Make rs587776452(C;C)

Make rs587776452(C;G)

Reference

GRCh38 38.1/142

Chromosome

X

Position

48791329

Gene

GATA1

is a	snp
is	mentioned by
dbSNP	rs587776452
dbSNP (classic)	rs587776452
ClinGen	rs587776452
ebi	rs587776452
HLI	rs587776452
Exac	rs587776452
Gnomad	rs587776452
Varsome	rs587776452
LitVar	rs587776452
Map	rs587776452
PheGenI	rs587776452
Biobank	rs587776452
1000 genomes	rs587776452
hgdp	rs587776452
ensembl	rs587776452
geneview	rs587776452
scholar	rs587776452
google	rs587776452
pharmgkb	rs587776452
gwascentral	rs587776452
openSNP	rs587776452
23andMe	rs587776452
SNPshot	rs587776452
SNPdbe	rs587776452
MSV3d	rs587776452
GWAS Ctlg	rs587776452

Max Magnitude

0

ClinVar
Risk	rs587776452(C;C)
Alt	rs587776452(C;C)
Reference	Rs587776452(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.48649736G>C
CLNSRC	ClinVar
CLNACC	RCV000144253.2,