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rs104894165

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894165(A;T)
Make rs104894165(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position8073747
GeneGATA3
is asnp
is mentioned by
dbSNPrs104894165
dbSNP (classic)rs104894165
ClinGenrs104894165
ebirs104894165
HLIrs104894165
Exacrs104894165
Gnomadrs104894165
Varsomers104894165
LitVarrs104894165
Maprs104894165
PheGenIrs104894165
Biobankrs104894165
1000 genomesrs104894165
hgdprs104894165
ensemblrs104894165
geneviewrs104894165
scholarrs104894165
googlers104894165
pharmgkbrs104894165
gwascentralrs104894165
openSNPrs104894165
23andMers104894165
SNPshotrs104894165
SNPdbers104894165
MSV3drs104894165
GWAS Ctlgrs104894165
Max Magnitude0
OMIM131320
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894165(T;T)
Alt rs104894165(T;T)
Reference Rs104894165(A;A)
Significance Pathogenic
Disease Barakat syndrome
Variation info
Gene GATA3
CLNDBN Barakat syndrome
Reversed 0
HGVS NC_000010.10:g.8115710A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018109.24,