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rs104894945

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894945(G;T)
Make rs104894945(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position80022435
GeneTBX22
is asnp
is mentioned by
dbSNPrs104894945
dbSNP (classic)rs104894945
ClinGenrs104894945
ebirs104894945
HLIrs104894945
Exacrs104894945
Gnomadrs104894945
Varsomers104894945
LitVarrs104894945
Maprs104894945
PheGenIrs104894945
Biobankrs104894945
1000 genomesrs104894945
hgdprs104894945
ensemblrs104894945
geneviewrs104894945
scholarrs104894945
googlers104894945
pharmgkbrs104894945
gwascentralrs104894945
openSNPrs104894945
23andMers104894945
SNPshotrs104894945
SNPdbers104894945
MSV3drs104894945
GWAS Ctlgrs104894945
Max Magnitude0
OMIM300307
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894945(T;T)
Alt rs104894945(T;T)
Reference Rs104894945(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.79277934G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012086.3,