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rs587776455

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776455(G;T)
Make rs587776455(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position48793916
GeneGATA1
is asnp
is mentioned by
dbSNPrs587776455
ebirs587776455
HLIrs587776455
Exacrs587776455
Varsomers587776455
Maprs587776455
PheGenIrs587776455
hapmaprs587776455
1000 genomesrs587776455
hgdprs587776455
ensemblrs587776455
gopubmedrs587776455
geneviewrs587776455
scholarrs587776455
googlers587776455
pharmgkbrs587776455
gwascentralrs587776455
openSNPrs587776455
23andMers587776455
23andMe allrs587776455
SNP Nexus

SNPshotrs587776455
SNPdbers587776455
MSV3drs587776455
GWAS Ctlgrs587776455
Max Magnitude0
ClinVar
Risk rs587776455(T;T)
Alt rs587776455(T;T)
Reference rs587776455(G;G)
Significance Pathogenic
Disease GATA-1-related thrombocytopenia with dyserythropoiesis
Variation info
Gene GATA1
CLNDBN GATA-1-related thrombocytopenia with dyserythropoiesis
Reversed 0
HGVS NC_000023.10:g.48652323G>T
CLNSRC ClinVar
CLNACC RCV000144260.2,