rs387907207

Orientation

plus

Stabilized

plus

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

Make rs387907207(C;T)

Make rs387907207(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

48792370

Gene

GATA1

is a	snp
is	mentioned by
dbSNP	rs387907207
dbSNP (classic)	rs387907207
ClinGen	rs387907207
ebi	rs387907207
HLI	rs387907207
Exac	rs387907207
Gnomad	rs387907207
Varsome	rs387907207
LitVar	rs387907207
Map	rs387907207
PheGenI	rs387907207
Biobank	rs387907207
1000 genomes	rs387907207
hgdp	rs387907207
ensembl	rs387907207
geneview	rs387907207
scholar	rs387907207
google	rs387907207
pharmgkb	rs387907207
gwascentral	rs387907207
openSNP	rs387907207
23andMe	rs387907207
SNPshot	rs387907207
SNPdbe	rs387907207
MSV3d	rs387907207
GWAS Ctlg	rs387907207

Max Magnitude

0

ClinVar
Risk	rs387907207(T;T)
Alt	rs387907207(T;T)
Reference	Rs387907207(C;C)
Significance	Pathogenic
Disease	Thrombocytopenia
Variation	info
Gene	GATA1
CLNDBN	Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
Reversed	0
HGVS	NC_000023.10:g.48650777C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024620.5,