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rs1060500653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500653(-;-)
Make rs1060500653(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position144390001
GeneZEB2
is asnp
is mentioned by
dbSNPrs1060500653
dbSNP (classic)rs1060500653
ClinGenrs1060500653
ebirs1060500653
HLIrs1060500653
Exacrs1060500653
Gnomadrs1060500653
Varsomers1060500653
LitVarrs1060500653
Maprs1060500653
PheGenIrs1060500653
Biobankrs1060500653
1000 genomesrs1060500653
hgdprs1060500653
ensemblrs1060500653
geneviewrs1060500653
scholarrs1060500653
googlers1060500653
pharmgkbrs1060500653
gwascentralrs1060500653
openSNPrs1060500653
23andMers1060500653
SNPshotrs1060500653
SNPdbers1060500653
MSV3drs1060500653
GWAS Ctlgrs1060500653
Max Magnitude0
ClinVar
Risk rs1060500653(-;-)
Alt rs1060500653(-;-)
Reference Rs1060500653(G;G)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145147568delC
CLNSRC
CLNACC RCV000477195.1,