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rs387906630

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906630(C;T)
Make rs387906630(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position128485837
GeneGATA2
is asnp
is mentioned by
dbSNPrs387906630
ebirs387906630
HLIrs387906630
Exacrs387906630
Varsomers387906630
Maprs387906630
PheGenIrs387906630
hapmaprs387906630
1000 genomesrs387906630
hgdprs387906630
ensemblrs387906630
gopubmedrs387906630
geneviewrs387906630
scholarrs387906630
googlers387906630
pharmgkbrs387906630
gwascentralrs387906630
openSNPrs387906630
23andMers387906630
23andMe allrs387906630
SNP Nexus

SNPshotrs387906630
SNPdbers387906630
MSV3drs387906630
GWAS Ctlgrs387906630
Max Magnitude0
ClinVar
Risk rs387906630(T;T)
Alt rs387906630(T;T)
Reference rs387906630(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.128204680G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022560.24,