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rs398124278

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs398124278(-;ACTC)
Make rs398124278(ACTC;ACTC)
ReferenceGRCh38 38.1/141
Chromosome2
Position144399009
GeneZEB2
is asnp
is mentioned by
dbSNPrs398124278
dbSNP (classic)rs398124278
ClinGenrs398124278
ebirs398124278
HLIrs398124278
Exacrs398124278
Gnomadrs398124278
Varsomers398124278
LitVarrs398124278
Maprs398124278
PheGenIrs398124278
Biobankrs398124278
1000 genomesrs398124278
hgdprs398124278
ensemblrs398124278
geneviewrs398124278
scholarrs398124278
googlers398124278
pharmgkbrs398124278
gwascentralrs398124278
openSNPrs398124278
23andMers398124278
SNPshotrs398124278
SNPdbers398124278
MSV3drs398124278
GWAS Ctlgrs398124278
Max Magnitude0
ClinVar
Risk rs398124278(ACTC;ACTC)
Alt rs398124278(ACTC;ACTC)
Reference Rs398124278(-;-)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145156577_145156580dupGAGT
CLNSRC ClinVar
CLNACC RCV000081662.3,