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rs587776452

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776452(C;C)
Make rs587776452(C;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position48791329
GeneGATA1
is asnp
is mentioned by
dbSNPrs587776452
ebirs587776452
HLIrs587776452
Exacrs587776452
Varsomers587776452
Maprs587776452
PheGenIrs587776452
hapmaprs587776452
1000 genomesrs587776452
hgdprs587776452
ensemblrs587776452
gopubmedrs587776452
geneviewrs587776452
scholarrs587776452
googlers587776452
pharmgkbrs587776452
gwascentralrs587776452
openSNPrs587776452
23andMers587776452
23andMe allrs587776452
SNP Nexus

SNPshotrs587776452
SNPdbers587776452
MSV3drs587776452
GWAS Ctlgrs587776452
Max Magnitude0
ClinVar
Risk rs587776452(C;C)
Alt rs587776452(C;C)
Reference rs587776452(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.48649736G>C
CLNSRC ClinVar
CLNACC RCV000144253.2,