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rs387906634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906634(G;T)
Make rs387906634(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position128481880
GeneGATA2
is asnp
is mentioned by
dbSNPrs387906634
dbSNP (classic)rs387906634
ClinGenrs387906634
ebirs387906634
HLIrs387906634
Exacrs387906634
Gnomadrs387906634
Varsomers387906634
LitVarrs387906634
Maprs387906634
PheGenIrs387906634
Biobankrs387906634
1000 genomesrs387906634
hgdprs387906634
ensemblrs387906634
geneviewrs387906634
scholarrs387906634
googlers387906634
pharmgkbrs387906634
gwascentralrs387906634
openSNPrs387906634
23andMers387906634
SNPshotrs387906634
SNPdbers387906634
MSV3drs387906634
GWAS Ctlgrs387906634
Max Magnitude0
ClinVar
Risk rs387906634(T;T)
Alt rs387906634(T;T)
Reference Rs387906634(G;G)
Significance Pathogenic
Disease Lymphedema
Variation info
Gene GATA2
CLNDBN Lymphedema, primary, with myelodysplasia
Reversed 1
HGVS NC_000003.11:g.128200723C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022573.27,