Have questions? Visit https://www.reddit.com/r/SNPedia

rs768767517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs768767517(-;C)
Make rs768767517(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position128485998
GeneGATA2
is asnp
is mentioned by
dbSNPrs768767517
dbSNP (classic)rs768767517
ClinGenrs768767517
ebirs768767517
HLIrs768767517
Exacrs768767517
Gnomadrs768767517
Varsomers768767517
LitVarrs768767517
Maprs768767517
PheGenIrs768767517
Biobankrs768767517
1000 genomesrs768767517
hgdprs768767517
ensemblrs768767517
geneviewrs768767517
scholarrs768767517
googlers768767517
pharmgkbrs768767517
gwascentralrs768767517
openSNPrs768767517
23andMers768767517
SNPshotrs768767517
SNPdbers768767517
MSV3drs768767517
GWAS Ctlgrs768767517
Max Magnitude0
ClinVar
Risk rs768767517(C;C)
Alt rs768767517(C;C)
Reference Rs768767517(-;-)
Significance Pathogenic
Disease Dendritic cell
Variation info
Gene GATA2
CLNDBN Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Reversed 0
HGVS NC_000003.11:g.128204842dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000022567.24,