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rs104894944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894944(G;T)
Make rs104894944(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position80023236
GeneTBX22
is asnp
is mentioned by
dbSNPrs104894944
dbSNP (classic)rs104894944
ClinGenrs104894944
ebirs104894944
HLIrs104894944
Exacrs104894944
Gnomadrs104894944
Varsomers104894944
LitVarrs104894944
Maprs104894944
PheGenIrs104894944
Biobankrs104894944
1000 genomesrs104894944
hgdprs104894944
ensemblrs104894944
geneviewrs104894944
scholarrs104894944
googlers104894944
pharmgkbrs104894944
gwascentralrs104894944
openSNPrs104894944
23andMers104894944
SNPshotrs104894944
SNPdbers104894944
MSV3drs104894944
GWAS Ctlgrs104894944
Max Magnitude0
OMIM300307
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894944(T;T)
Alt rs104894944(T;T)
Reference Rs104894944(G;G)
Significance Pathogenic
Disease Cleft palate with ankyloglossia
Variation info
Gene TBX22
CLNDBN Cleft palate with ankyloglossia
Reversed 0
HGVS NC_000023.10:g.79278735G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012083.12,