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rs104894946

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894946(C;C)
Make rs104894946(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position80026711
GeneTBX22
is asnp
is mentioned by
dbSNPrs104894946
dbSNP (classic)rs104894946
ClinGenrs104894946
ebirs104894946
HLIrs104894946
Exacrs104894946
Gnomadrs104894946
Varsomers104894946
LitVarrs104894946
Maprs104894946
PheGenIrs104894946
Biobankrs104894946
1000 genomesrs104894946
hgdprs104894946
ensemblrs104894946
geneviewrs104894946
scholarrs104894946
googlers104894946
pharmgkbrs104894946
gwascentralrs104894946
openSNPrs104894946
23andMers104894946
SNPshotrs104894946
SNPdbers104894946
MSV3drs104894946
GWAS Ctlgrs104894946
Max Magnitude0
OMIM300307
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894946(C;C)
Alt rs104894946(C;C)
Reference Rs104894946(T;T)
Significance Pathogenic
Disease Cleft palate with ankyloglossia
Variation info
Gene TBX22
CLNDBN Cleft palate with ankyloglossia
Reversed 0
HGVS NC_000023.10:g.79282210T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012087.12,