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rs863224874

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863224874(-;CCTC)
Make rs863224874(CCTC;CCTC)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position128481836
GeneGATA2
is asnp
is mentioned by
dbSNPrs863224874
dbSNP (classic)rs863224874
ClinGenrs863224874
ebirs863224874
HLIrs863224874
Exacrs863224874
Gnomadrs863224874
Varsomers863224874
LitVarrs863224874
Maprs863224874
PheGenIrs863224874
Biobankrs863224874
1000 genomesrs863224874
hgdprs863224874
ensemblrs863224874
geneviewrs863224874
scholarrs863224874
googlers863224874
pharmgkbrs863224874
gwascentralrs863224874
openSNPrs863224874
23andMers863224874
SNPshotrs863224874
SNPdbers863224874
MSV3drs863224874
GWAS Ctlgrs863224874
Max Magnitude0
ClinVar
Risk rs863224874(CCTC;CCTC)
Alt rs863224874(CCTC;CCTC)
Reference Rs863224874(-;-)
Significance Pathogenic
Disease Lymphedema
Variation info
Gene GATA2
CLNDBN Lymphedema, primary, with myelodysplasia
Reversed 1
HGVS NC_000003.11:g.128200680_128200683dupGAGG
CLNSRC
CLNACC RCV000199975.1,