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rs387906621

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906621(A;A)
Make rs387906621(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position8069573
GeneGATA3
is asnp
is mentioned by
dbSNPrs387906621
dbSNP (classic)rs387906621
ClinGenrs387906621
ebirs387906621
HLIrs387906621
Exacrs387906621
Gnomadrs387906621
Varsomers387906621
LitVarrs387906621
Maprs387906621
PheGenIrs387906621
Biobankrs387906621
1000 genomesrs387906621
hgdprs387906621
ensemblrs387906621
geneviewrs387906621
scholarrs387906621
googlers387906621
pharmgkbrs387906621
gwascentralrs387906621
openSNPrs387906621
23andMers387906621
SNPshotrs387906621
SNPdbers387906621
MSV3drs387906621
GWAS Ctlgrs387906621
Max Magnitude0
ClinVar
Risk rs387906621(A;A)
Alt rs387906621(A;A)
Reference Rs387906621(G;G)
Significance Pathogenic
Disease Barakat syndrome
Variation info
Gene GATA3
CLNDBN Barakat syndrome
Reversed 0
HGVS NC_000010.10:g.8111536G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022539.24,