Have questions? Visit https://www.reddit.com/r/SNPedia

rs587776456

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587776456(C;C)
Make rs587776456(C;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position48794162
GeneGATA1
is asnp
is mentioned by
dbSNPrs587776456
ebirs587776456
HLIrs587776456
Exacrs587776456
Varsomers587776456
Maprs587776456
PheGenIrs587776456
hapmaprs587776456
1000 genomesrs587776456
hgdprs587776456
ensemblrs587776456
gopubmedrs587776456
geneviewrs587776456
scholarrs587776456
googlers587776456
pharmgkbrs587776456
gwascentralrs587776456
openSNPrs587776456
23andMers587776456
23andMe allrs587776456
SNP Nexus

SNPshotrs587776456
SNPdbers587776456
MSV3drs587776456
GWAS Ctlgrs587776456
Max Magnitude0
ClinVar
Risk rs587776456(C;C)
Alt rs587776456(C;C)
Reference rs587776456(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.48652569T>C
CLNSRC ClinVar
CLNACC RCV000144261.2,