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rs137852983

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852983(A;G)
Make rs137852983(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position144389740
GeneZEB2
is asnp
is mentioned by
dbSNPrs137852983
dbSNP (classic)rs137852983
ClinGenrs137852983
ebirs137852983
HLIrs137852983
Exacrs137852983
Gnomadrs137852983
Varsomers137852983
LitVarrs137852983
Maprs137852983
PheGenIrs137852983
Biobankrs137852983
1000 genomesrs137852983
hgdprs137852983
ensemblrs137852983
geneviewrs137852983
scholarrs137852983
googlers137852983
pharmgkbrs137852983
gwascentralrs137852983
openSNPrs137852983
23andMers137852983
SNPshotrs137852983
SNPdbers137852983
MSV3drs137852983
GWAS Ctlgrs137852983
Max Magnitude0
OMIM605802
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137852983(G;G)
Alt rs137852983(G;G)
Reference Rs137852983(A;A)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145147307T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005034.2,