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rs104894164

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894164(C;T)
Make rs104894164(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position8073787
GeneGATA3
is asnp
is mentioned by
dbSNPrs104894164
dbSNP (classic)rs104894164
ClinGenrs104894164
ebirs104894164
HLIrs104894164
Exacrs104894164
Gnomadrs104894164
Varsomers104894164
LitVarrs104894164
Maprs104894164
PheGenIrs104894164
Biobankrs104894164
1000 genomesrs104894164
hgdprs104894164
ensemblrs104894164
geneviewrs104894164
scholarrs104894164
googlers104894164
pharmgkbrs104894164
gwascentralrs104894164
openSNPrs104894164
23andMers104894164
SNPshotrs104894164
SNPdbers104894164
MSV3drs104894164
GWAS Ctlgrs104894164
Max Magnitude0
OMIM131320
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894164(T;T)
Alt rs104894164(T;T)
Reference Rs104894164(C;C)
Significance Pathogenic
Disease Barakat syndrome
Variation info
Gene GATA3
CLNDBN Barakat syndrome
Reversed 0
HGVS NC_000010.10:g.8115750C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018105.27,