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rs587776451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587776451(C;C)
Make rs587776451(C;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position48791111
GeneGATA1
is asnp
is mentioned by
dbSNPrs587776451
ebirs587776451
HLIrs587776451
Exacrs587776451
Varsomers587776451
Maprs587776451
PheGenIrs587776451
hapmaprs587776451
1000 genomesrs587776451
hgdprs587776451
ensemblrs587776451
gopubmedrs587776451
geneviewrs587776451
scholarrs587776451
googlers587776451
pharmgkbrs587776451
gwascentralrs587776451
openSNPrs587776451
23andMers587776451
23andMe allrs587776451
SNP Nexus

SNPshotrs587776451
SNPdbers587776451
MSV3drs587776451
GWAS Ctlgrs587776451
Max Magnitude0
ClinVar
Risk rs587776451(C;C)
Alt rs587776451(C;C)
Reference rs587776451(T;T)
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.48649518T>C
CLNSRC ClinVar
CLNACC RCV000144252.2,