rs104894816

Orientation

plus

Stabilized

plus

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

Make rs104894816(A;G)

Make rs104894816(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

48792377

Gene

GATA1

is a	snp
is	mentioned by
dbSNP	rs104894816
dbSNP (classic)	rs104894816
ClinGen	rs104894816
ebi	rs104894816
HLI	rs104894816
Exac	rs104894816
Gnomad	rs104894816
Varsome	rs104894816
LitVar	rs104894816
Map	rs104894816
PheGenI	rs104894816
Biobank	rs104894816
1000 genomes	rs104894816
hgdp	rs104894816
ensembl	rs104894816
geneview	rs104894816
scholar	rs104894816
google	rs104894816
pharmgkb	rs104894816
gwascentral	rs104894816
openSNP	rs104894816
23andMe	rs104894816
SNPshot	rs104894816
SNPdbe	rs104894816
MSV3d	rs104894816
GWAS Ctlg	rs104894816

Max Magnitude

0

OMIM	305371
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894816(G;G)
Alt	rs104894816(G;G)
Reference	Rs104894816(A;A)
Significance	Pathogenic
Disease	Thrombocytopenia GATA-1-related thrombocytopenia with dyserythropoiesis
Variation	info
Gene	GATA1
CLNDBN	Thrombocytopenia, X-linked, without dyserythropoietic anemia GATA-1-related thrombocytopenia with dyserythropoiesis
Reversed	0
HGVS	NC_000023.10:g.48650784A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011169.2, RCV000144258.2,