rs104894809

Orientation

plus

Stabilized

plus

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

Make rs104894809(A;A)

Make rs104894809(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

48792371

Gene

GATA1

is a	snp
is	mentioned by
dbSNP	rs104894809
dbSNP (classic)	rs104894809
ClinGen	rs104894809
ebi	rs104894809
HLI	rs104894809
Exac	rs104894809
Gnomad	rs104894809
Varsome	rs104894809
LitVar	rs104894809
Map	rs104894809
PheGenI	rs104894809
Biobank	rs104894809
1000 genomes	rs104894809
hgdp	rs104894809
ensembl	rs104894809
geneview	rs104894809
scholar	rs104894809
google	rs104894809
pharmgkb	rs104894809
gwascentral	rs104894809
openSNP	rs104894809
23andMe	rs104894809
SNPshot	rs104894809
SNPdbe	rs104894809
MSV3d	rs104894809
GWAS Ctlg	rs104894809

Max Magnitude

0

OMIM	305371
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894809(A;A)
Alt	rs104894809(A;A)
Reference	Rs104894809(G;G)
Significance	Pathogenic
Disease	Thrombocytopenia
Variation	info
Gene	GATA1
CLNDBN	Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
Reversed	0
HGVS	NC_000023.10:g.48650778G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011173.6,