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rs387906632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906632(C;T)
Make rs387906632(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position128483868
GeneGATA2
is asnp
is mentioned by
dbSNPrs387906632
dbSNP (classic)rs387906632
ClinGenrs387906632
ebirs387906632
HLIrs387906632
Exacrs387906632
Gnomadrs387906632
Varsomers387906632
LitVarrs387906632
Maprs387906632
PheGenIrs387906632
Biobankrs387906632
1000 genomesrs387906632
hgdprs387906632
ensemblrs387906632
geneviewrs387906632
scholarrs387906632
googlers387906632
pharmgkbrs387906632
gwascentralrs387906632
openSNPrs387906632
23andMers387906632
SNPshotrs387906632
SNPdbers387906632
MSV3drs387906632
GWAS Ctlgrs387906632
Max Magnitude0
ClinVar
Risk rs387906632(T;T)
Alt rs387906632(T;T)
Reference Rs387906632(C;C)
Significance Pathogenic
Disease Lymphedema
Variation info
Gene GATA2
CLNDBN Lymphedema, primary, with myelodysplasia
Reversed 1
HGVS NC_000003.11:g.128202711G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022571.27,