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rs398124274

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124274(C;T)
Make rs398124274(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position144399806
GeneZEB2
is asnp
is mentioned by
dbSNPrs398124274
dbSNP (classic)rs398124274
ClinGenrs398124274
ebirs398124274
HLIrs398124274
Exacrs398124274
Gnomadrs398124274
Varsomers398124274
LitVarrs398124274
Maprs398124274
PheGenIrs398124274
Biobankrs398124274
1000 genomesrs398124274
hgdprs398124274
ensemblrs398124274
geneviewrs398124274
scholarrs398124274
googlers398124274
pharmgkbrs398124274
gwascentralrs398124274
openSNPrs398124274
23andMers398124274
SNPshotrs398124274
SNPdbers398124274
MSV3drs398124274
GWAS Ctlgrs398124274
Max Magnitude0
ClinVar
Risk rs398124274(T;T)
Alt rs398124274(T;T)
Reference Rs398124274(C;C)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145157373G>A
CLNSRC HGMD
CLNACC RCV000081653.4,