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rs387906629

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906629(C;T)
Make rs387906629(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position128481270
GeneGATA2
is asnp
is mentioned by
dbSNPrs387906629
ebirs387906629
HLIrs387906629
Exacrs387906629
Varsomers387906629
Maprs387906629
PheGenIrs387906629
hapmaprs387906629
1000 genomesrs387906629
hgdprs387906629
ensemblrs387906629
gopubmedrs387906629
geneviewrs387906629
scholarrs387906629
googlers387906629
pharmgkbrs387906629
gwascentralrs387906629
openSNPrs387906629
23andMers387906629
23andMe allrs387906629
SNP Nexus

SNPshotrs387906629
SNPdbers387906629
MSV3drs387906629
GWAS Ctlgrs387906629
Max Magnitude0
ClinVar
Risk rs387906629(T;T)
Alt rs387906629(T;T)
Reference rs387906629(C;C)
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.128200113G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022559.24,