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rs387906633

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906633(C;C)
Make rs387906633(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position128481845
GeneGATA2
is asnp
is mentioned by
dbSNPrs387906633
ebirs387906633
HLIrs387906633
Exacrs387906633
Varsomers387906633
Maprs387906633
PheGenIrs387906633
hapmaprs387906633
1000 genomesrs387906633
hgdprs387906633
ensemblrs387906633
gopubmedrs387906633
geneviewrs387906633
scholarrs387906633
googlers387906633
pharmgkbrs387906633
gwascentralrs387906633
openSNPrs387906633
23andMers387906633
23andMe allrs387906633
SNP Nexus

SNPshotrs387906633
SNPdbers387906633
MSV3drs387906633
GWAS Ctlgrs387906633
Max Magnitude0
ClinVar
Risk rs387906633(C;C)
Alt rs387906633(C;C)
Reference rs387906633(T;T)
Significance Pathogenic
Disease Lymphedema
Variation info
Gene GATA2
CLNDBN Lymphedema, primary, with myelodysplasia
Reversed 1
HGVS NC_000003.11:g.128200688A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022572.27,