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rs376003468

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs376003468(G;T)
Make rs376003468(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position128481849
GeneGATA2
is asnp
is mentioned by
dbSNPrs376003468
ebirs376003468
HLIrs376003468
Exacrs376003468
Varsomers376003468
Maprs376003468
PheGenIrs376003468
hapmaprs376003468
1000 genomesrs376003468
hgdprs376003468
ensemblrs376003468
gopubmedrs376003468
geneviewrs376003468
scholarrs376003468
googlers376003468
pharmgkbrs376003468
gwascentralrs376003468
openSNPrs376003468
23andMers376003468
23andMe allrs376003468
SNP Nexus

SNPshotrs376003468
SNPdbers376003468
MSV3drs376003468
GWAS Ctlgrs376003468
Max Magnitude0
ClinVar
Risk rs376003468(A,T;A,T)
Alt rs376003468(A,T;A,T)
Reference rs376003468(G;G)
Significance Probable-Pathogenic
Disease Dendritic cell Lymphedema
Variation info
Gene GATA2
CLNDBN Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Lymphedema, primary, with myelodysplasia
Reversed 0
HGVS NC_000003.11:g.128200692G>T
CLNSRC
CLNACC RCV000197751.1,