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rs137852982

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852982(C;G)
Make rs137852982(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position144398632
GeneZEB2
is asnp
is mentioned by
dbSNPrs137852982
dbSNP (classic)rs137852982
ClinGenrs137852982
ebirs137852982
HLIrs137852982
Exacrs137852982
Gnomadrs137852982
Varsomers137852982
LitVarrs137852982
Maprs137852982
PheGenIrs137852982
Biobankrs137852982
1000 genomesrs137852982
hgdprs137852982
ensemblrs137852982
geneviewrs137852982
scholarrs137852982
googlers137852982
pharmgkbrs137852982
gwascentralrs137852982
openSNPrs137852982
23andMers137852982
SNPshotrs137852982
SNPdbers137852982
MSV3drs137852982
GWAS Ctlgrs137852982
Max Magnitude0
OMIM605802
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137852982(G;G)
Alt rs137852982(G;G)
Reference Rs137852982(C;C)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145156199G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005028.2,