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rs869320770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs869320770(-;GCCG)
Make rs869320770(GCCG;GCCG)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position128481937
GeneGATA2
is asnp
is mentioned by
dbSNPrs869320770
dbSNP (classic)rs869320770
ClinGenrs869320770
ebirs869320770
HLIrs869320770
Exacrs869320770
Gnomadrs869320770
Varsomers869320770
LitVarrs869320770
Maprs869320770
PheGenIrs869320770
Biobankrs869320770
1000 genomesrs869320770
hgdprs869320770
ensemblrs869320770
geneviewrs869320770
scholarrs869320770
googlers869320770
pharmgkbrs869320770
gwascentralrs869320770
openSNPrs869320770
23andMers869320770
SNPshotrs869320770
SNPdbers869320770
MSV3drs869320770
GWAS Ctlgrs869320770
Max Magnitude0
ClinVar
Risk rs869320770(GCCG;GCCG)
Alt rs869320770(GCCG;GCCG)
Reference Rs869320770(-;-)
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.128200781_128200784dupCGGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000210903.1,