rs587776451

Orientation

plus

Stabilized

plus

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

Make rs587776451(C;C)

Make rs587776451(C;T)

Reference

GRCh38 38.1/142

Chromosome

X

Position

48791111

Gene

GATA1

is a	snp
is	mentioned by
dbSNP	rs587776451
dbSNP (classic)	rs587776451
ClinGen	rs587776451
ebi	rs587776451
HLI	rs587776451
Exac	rs587776451
Gnomad	rs587776451
Varsome	rs587776451
LitVar	rs587776451
Map	rs587776451
PheGenI	rs587776451
Biobank	rs587776451
1000 genomes	rs587776451
hgdp	rs587776451
ensembl	rs587776451
geneview	rs587776451
scholar	rs587776451
google	rs587776451
pharmgkb	rs587776451
gwascentral	rs587776451
openSNP	rs587776451
23andMe	rs587776451
SNPshot	rs587776451
SNPdbe	rs587776451
MSV3d	rs587776451
GWAS Ctlg	rs587776451

Max Magnitude

0

ClinVar
Risk	rs587776451(C;C)
Alt	rs587776451(C;C)
Reference	Rs587776451(T;T)
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.48649518T>C
CLNSRC	ClinVar
CLNACC	RCV000144252.2,