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rs869320734

From SNPedia

Orientationminus
Geno Mag Summary
(CGAAACGCCAAC;CGAAACGCCAAC) 0 common in clinvar
Make rs869320734(-;-)
Make rs869320734(-;CGAAACGCCAAC)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position128481867
GeneGATA2
is asnp
is mentioned by
dbSNPrs869320734
ebirs869320734
HLIrs869320734
Exacrs869320734
Varsomers869320734
Maprs869320734
PheGenIrs869320734
hapmaprs869320734
1000 genomesrs869320734
hgdprs869320734
ensemblrs869320734
gopubmedrs869320734
geneviewrs869320734
scholarrs869320734
googlers869320734
pharmgkbrs869320734
gwascentralrs869320734
openSNPrs869320734
23andMers869320734
23andMe allrs869320734
SNP Nexus

SNPshotrs869320734
SNPdbers869320734
MSV3drs869320734
GWAS Ctlgrs869320734
Max Magnitude0
ClinVar
Risk rs869320734(;)
Alt rs869320734(;)
Reference rs869320734(CGAAACGCCAAC;CGAAACGCCAAC)
Significance Pathogenic
Disease Dendritic cell
Variation info
Gene GATA2
CLNDBN Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Reversed 1
HGVS NC_000003.11:g.128200710_128200721delGTTGGCGTTTCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000022565.28,