rs137852312

Orientation

plus

Stabilized

plus

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

Make rs137852312(GG;TC)

Make rs137852312(TC;TC)

Reference

GRCh38 38.1/141

Chromosome

X

Position

48792346

Gene

GATA1

is a	snp
is	mentioned by
dbSNP	rs137852312
dbSNP (classic)	rs137852312
ClinGen	rs137852312
ebi	rs137852312
HLI	rs137852312
Exac	rs137852312
Gnomad	rs137852312
Varsome	rs137852312
LitVar	rs137852312
Map	rs137852312
PheGenI	rs137852312
Biobank	rs137852312
1000 genomes	rs137852312
hgdp	rs137852312
ensembl	rs137852312
geneview	rs137852312
scholar	rs137852312
google	rs137852312
pharmgkb	rs137852312
gwascentral	rs137852312
openSNP	rs137852312
23andMe	rs137852312
SNPshot	rs137852312
SNPdbe	rs137852312
MSV3d	rs137852312
GWAS Ctlg	rs137852312

Max Magnitude

0

OMIM	305371
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852312(TC;TC)
Alt	rs137852312(TC;TC)
Reference	Rs137852312(GG;GG)
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.48650753_48650754delGGinsTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011170.2, RCV000144256.2,