rs104894808

Orientation

plus

Stabilized

plus

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

Make rs104894808(G;T)

Make rs104894808(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

48792376

Gene

GATA1

is a	snp
is	mentioned by
dbSNP	rs104894808
dbSNP (classic)	rs104894808
ClinGen	rs104894808
ebi	rs104894808
HLI	rs104894808
Exac	rs104894808
Gnomad	rs104894808
Varsome	rs104894808
LitVar	rs104894808
Map	rs104894808
PheGenI	rs104894808
Biobank	rs104894808
1000 genomes	rs104894808
hgdp	rs104894808
ensembl	rs104894808
geneview	rs104894808
scholar	rs104894808
google	rs104894808
pharmgkb	rs104894808
gwascentral	rs104894808
openSNP	rs104894808
23andMe	rs104894808
SNPshot	rs104894808
SNPdbe	rs104894808
MSV3d	rs104894808
GWAS Ctlg	rs104894808

Max Magnitude

0

OMIM	305371
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894808(T;T)
Alt	rs104894808(T;T)
Reference	Rs104894808(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.48650783G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011172.4, RCV000144259.2,