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rs387906551

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906551(GCTTACTTCCC;GCTTACTTCCC)
Make rs387906551(GCTTACTTCCC;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position8064140
GeneGATA3
is asnp
is mentioned by
dbSNPrs387906551
ebirs387906551
HLIrs387906551
Exacrs387906551
Varsomers387906551
Maprs387906551
PheGenIrs387906551
hapmaprs387906551
1000 genomesrs387906551
hgdprs387906551
ensemblrs387906551
gopubmedrs387906551
geneviewrs387906551
scholarrs387906551
googlers387906551
pharmgkbrs387906551
gwascentralrs387906551
openSNPrs387906551
23andMers387906551
23andMe allrs387906551
SNP Nexus

SNPshotrs387906551
SNPdbers387906551
MSV3drs387906551
GWAS Ctlgrs387906551
Max Magnitude0
ClinVar
Risk rs387906551(GCTTACTTCCC;GCTTACTTCCC)
Alt rs387906551(GCTTACTTCCC;GCTTACTTCCC)
Reference rs387906551(T;T)
Significance Pathogenic
Disease Barakat syndrome
Variation info
Gene GATA3
CLNDBN Barakat syndrome
Reversed 0
HGVS NC_000010.10:g.8106103delTinsGCTTACTTCCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000018108.23,