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rs794727924

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727924(C;T)
Make rs794727924(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position144398486
GeneZEB2
is asnp
is mentioned by
dbSNPrs794727924
dbSNP (classic)rs794727924
ClinGenrs794727924
ebirs794727924
HLIrs794727924
Exacrs794727924
Gnomadrs794727924
Varsomers794727924
LitVarrs794727924
Maprs794727924
PheGenIrs794727924
Biobankrs794727924
1000 genomesrs794727924
hgdprs794727924
ensemblrs794727924
geneviewrs794727924
scholarrs794727924
googlers794727924
pharmgkbrs794727924
gwascentralrs794727924
openSNPrs794727924
23andMers794727924
SNPshotrs794727924
SNPdbers794727924
MSV3drs794727924
GWAS Ctlgrs794727924
Max Magnitude0
ClinVar
Risk rs794727924(T;T)
Alt rs794727924(T;T)
Reference Rs794727924(C;C)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145156053G>A
CLNSRC
CLNACC RCV000180325.1,