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rs869320735

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869320735(A;GC)
Make rs869320735(GC;GC)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position128486355
GeneGATA2
is asnp
is mentioned by
dbSNPrs869320735
dbSNP (classic)rs869320735
ClinGenrs869320735
ebirs869320735
HLIrs869320735
Exacrs869320735
Gnomadrs869320735
Varsomers869320735
LitVarrs869320735
Maprs869320735
PheGenIrs869320735
Biobankrs869320735
1000 genomesrs869320735
hgdprs869320735
ensemblrs869320735
geneviewrs869320735
scholarrs869320735
googlers869320735
pharmgkbrs869320735
gwascentralrs869320735
openSNPrs869320735
23andMers869320735
SNPshotrs869320735
SNPdbers869320735
MSV3drs869320735
GWAS Ctlgrs869320735
Max Magnitude0
ClinVar
Risk rs869320735(GC;GC)
Alt rs869320735(GC;GC)
Reference Rs869320735(A;A)
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.128205198delTinsGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000022566.28,