rs587776454

Orientation

plus

Stabilized

plus

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

Make rs587776454(C;C)

Make rs587776454(C;G)

Reference

GRCh38 38.1/142

Chromosome

X

Position

48792346

Gene

GATA1

is a	snp
is	mentioned by
dbSNP	rs587776454
dbSNP (classic)	rs587776454
ClinGen	rs587776454
ebi	rs587776454
HLI	rs587776454
Exac	rs587776454
Gnomad	rs587776454
Varsome	rs587776454
LitVar	rs587776454
Map	rs587776454
PheGenI	rs587776454
Biobank	rs587776454
1000 genomes	rs587776454
hgdp	rs587776454
ensembl	rs587776454
geneview	rs587776454
scholar	rs587776454
google	rs587776454
pharmgkb	rs587776454
gwascentral	rs587776454
openSNP	rs587776454
23andMe	rs587776454
SNPshot	rs587776454
SNPdbe	rs587776454
MSV3d	rs587776454
GWAS Ctlg	rs587776454

Max Magnitude

0

ClinVar
Risk	rs587776454(A;A) rs587776454(C;C)
Alt	rs587776454(A;A) rs587776454(C;C)
Reference	Rs587776454(G;G)
Significance	Pathogenic
Disease	not provided GATA-1-related thrombocytopenia with dyserythropoiesis
Variation	info
Gene	GATA1
CLNDBN	not provided GATA-1-related thrombocytopenia with dyserythropoiesis
Reversed	0
HGVS	NC_000023.10:g.48650753G>A; NC_000023.10:g.48650753G>C
CLNSRC	ClinVar
CLNACC	RCV000414345.1, RCV000144257.2,