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rs398124627

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs398124627(-;TACT)
Make rs398124627(TACT;TACT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48791296
GeneGATA1
is asnp
is mentioned by
dbSNPrs398124627
dbSNP (classic)rs398124627
ClinGenrs398124627
ebirs398124627
HLIrs398124627
Exacrs398124627
Gnomadrs398124627
Varsomers398124627
LitVarrs398124627
Maprs398124627
PheGenIrs398124627
Biobankrs398124627
1000 genomesrs398124627
hgdprs398124627
ensemblrs398124627
geneviewrs398124627
scholarrs398124627
googlers398124627
pharmgkbrs398124627
gwascentralrs398124627
openSNPrs398124627
23andMers398124627
SNPshotrs398124627
SNPdbers398124627
MSV3drs398124627
GWAS Ctlgrs398124627
Max Magnitude0
ClinVar
Risk rs398124627(TACT;TACT)
Alt rs398124627(TACT;TACT)
Reference Rs398124627(-;-)
Significance Pathogenic
Disease Leukemia
Variation info
Gene GATA1
CLNDBN Leukemia, megakaryoblastic, of Down syndrome
Reversed 0
HGVS NC_000023.10:g.48649700_48649703dupTACT
CLNSRC OMIM Allelic Variant
CLNACC RCV000011171.4,