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rs587776454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776454(C;C)
Make rs587776454(C;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position48792346
GeneGATA1
is asnp
is mentioned by
dbSNPrs587776454
ClinGenrs587776454
ebirs587776454
HLIrs587776454
Exacrs587776454
Varsomers587776454
Maprs587776454
PheGenIrs587776454
hapmaprs587776454
1000 genomesrs587776454
hgdprs587776454
ensemblrs587776454
gopubmedrs587776454
geneviewrs587776454
scholarrs587776454
googlers587776454
pharmgkbrs587776454
gwascentralrs587776454
openSNPrs587776454
23andMers587776454
23andMe allrs587776454
SNP Nexus

SNPshotrs587776454
SNPdbers587776454
MSV3drs587776454
GWAS Ctlgrs587776454
Max Magnitude0
ClinVar
Risk rs587776454(C;C)
Alt rs587776454(C;C)
Reference Rs587776454(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.48650753G>C
CLNSRC ClinVar
CLNACC RCV000144257.2,