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rs797046119

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACTC;ACTC) 0 common in clinvar
Make rs797046119(-;-)
Make rs797046119(-;ACTC)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position144398780
GeneZEB2
is asnp
is mentioned by
dbSNPrs797046119
dbSNP (classic)rs797046119
ClinGenrs797046119
ebirs797046119
HLIrs797046119
Exacrs797046119
Gnomadrs797046119
Varsomers797046119
LitVarrs797046119
Maprs797046119
PheGenIrs797046119
Biobankrs797046119
1000 genomesrs797046119
hgdprs797046119
ensemblrs797046119
geneviewrs797046119
scholarrs797046119
googlers797046119
pharmgkbrs797046119
gwascentralrs797046119
openSNPrs797046119
23andMers797046119
SNPshotrs797046119
SNPdbers797046119
MSV3drs797046119
GWAS Ctlgrs797046119
Max Magnitude0
ClinVar
Risk rs797046119(-;-)
Alt rs797046119(-;-)
Reference Rs797046119(ACTC;ACTC)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145156347_145156350delGAGT
CLNSRC
CLNACC RCV000192418.1,