rs104894815

Orientation

plus

Stabilized

plus

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

Make rs104894815(A;A)

Make rs104894815(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

48792337

Gene

GATA1

is a	snp
is	mentioned by
dbSNP	rs104894815
dbSNP (classic)	rs104894815
ClinGen	rs104894815
ebi	rs104894815
HLI	rs104894815
Exac	rs104894815
Gnomad	rs104894815
Varsome	rs104894815
LitVar	rs104894815
Map	rs104894815
PheGenI	rs104894815
Biobank	rs104894815
1000 genomes	rs104894815
hgdp	rs104894815
ensembl	rs104894815
geneview	rs104894815
scholar	rs104894815
google	rs104894815
pharmgkb	rs104894815
gwascentral	rs104894815
openSNP	rs104894815
23andMe	rs104894815
SNPshot	rs104894815
SNPdbe	rs104894815
MSV3d	rs104894815
GWAS Ctlg	rs104894815

Max Magnitude

0

OMIM	305371
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894815(A;A)
Alt	rs104894815(A;A)
Reference	Rs104894815(G;G)
Significance	Pathogenic
Disease	Dyserythropoietic anemia with thrombocytopenia GATA-1-related thrombocytopenia with dyserythropoiesis
Variation	info
Gene	GATA1
CLNDBN	Dyserythropoietic anemia with thrombocytopenia GATA-1-related thrombocytopenia with dyserythropoiesis
Reversed	0
HGVS	NC_000023.10:g.48650744G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011168.5, RCV000144255.2,