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rs863224942

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224942(G;T)
Make rs863224942(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position144396547
GeneZEB2
is asnp
is mentioned by
dbSNPrs863224942
dbSNP (classic)rs863224942
ClinGenrs863224942
ebirs863224942
HLIrs863224942
Exacrs863224942
Gnomadrs863224942
Varsomers863224942
LitVarrs863224942
Maprs863224942
PheGenIrs863224942
Biobankrs863224942
1000 genomesrs863224942
hgdprs863224942
ensemblrs863224942
geneviewrs863224942
scholarrs863224942
googlers863224942
pharmgkbrs863224942
gwascentralrs863224942
openSNPrs863224942
23andMers863224942
SNPshotrs863224942
SNPdbers863224942
MSV3drs863224942
GWAS Ctlgrs863224942
Max Magnitude0
ClinVar
Risk rs863224942(T;T)
Alt rs863224942(T;T)
Reference Rs863224942(G;G)
Significance Probable-Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145154114C>A
CLNSRC
CLNACC RCV000198384.1,