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rs397515449

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515449(A;G)
Make rs397515449(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position144389962
GeneZEB2
is asnp
is mentioned by
dbSNPrs397515449
dbSNP (classic)rs397515449
ClinGenrs397515449
ebirs397515449
HLIrs397515449
Exacrs397515449
Gnomadrs397515449
Varsomers397515449
LitVarrs397515449
Maprs397515449
PheGenIrs397515449
Biobankrs397515449
1000 genomesrs397515449
hgdprs397515449
ensemblrs397515449
geneviewrs397515449
scholarrs397515449
googlers397515449
pharmgkbrs397515449
gwascentralrs397515449
openSNPrs397515449
23andMers397515449
SNPshotrs397515449
SNPdbers397515449
MSV3drs397515449
GWAS Ctlgrs397515449
Max Magnitude0
ClinVar
Risk rs397515449(G;G)
Alt rs397515449(G;G)
Reference Rs397515449(A;A)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145147529T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000050219.2,