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rs28935177

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28935177(A;T)
Make rs28935177(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position80026860
GeneTBX22
is asnp
is mentioned by
dbSNPrs28935177
dbSNP (classic)rs28935177
ClinGenrs28935177
ebirs28935177
HLIrs28935177
Exacrs28935177
Gnomadrs28935177
Varsomers28935177
LitVarrs28935177
Maprs28935177
PheGenIrs28935177
Biobankrs28935177
1000 genomesrs28935177
hgdprs28935177
ensemblrs28935177
geneviewrs28935177
scholarrs28935177
googlers28935177
pharmgkbrs28935177
gwascentralrs28935177
openSNPrs28935177
23andMers28935177
SNPshotrs28935177
SNPdbers28935177
MSV3drs28935177
GWAS Ctlgrs28935177
Max Magnitude0
OMIM300307
DescCLEFT PALATE WITH ANKYLOGLOSSIA
Variant0009
Relatedalso


ClinVar
Risk rs28935177(T;T)
Alt rs28935177(T;T)
Reference Rs28935177(A;A)
Significance Pathogenic
Disease Cleft palate with ankyloglossia
Variation info
Gene TBX22
CLNDBN Cleft palate with ankyloglossia
Reversed 0
HGVS NC_000023.10:g.79282359A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012089.3,