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rs587776453

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776453(-;-)
Make rs587776453(-;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position48791330
GeneGATA1
is asnp
is mentioned by
dbSNPrs587776453
ebirs587776453
HLIrs587776453
Exacrs587776453
Varsomers587776453
Maprs587776453
PheGenIrs587776453
hapmaprs587776453
1000 genomesrs587776453
hgdprs587776453
ensemblrs587776453
gopubmedrs587776453
geneviewrs587776453
scholarrs587776453
googlers587776453
pharmgkbrs587776453
gwascentralrs587776453
openSNPrs587776453
23andMers587776453
23andMe allrs587776453
SNP Nexus

SNPshotrs587776453
SNPdbers587776453
MSV3drs587776453
GWAS Ctlgrs587776453
Max Magnitude0
ClinVar
Risk rs587776453(;)
Alt rs587776453(;)
Reference rs587776453(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.48649737delG
CLNSRC ClinVar
CLNACC RCV000144254.2,