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rs727504223

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504223(-;-)
Make rs727504223(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position144389563
GeneZEB2
is asnp
is mentioned by
dbSNPrs727504223
dbSNP (classic)rs727504223
ClinGenrs727504223
ebirs727504223
HLIrs727504223
Exacrs727504223
Gnomadrs727504223
Varsomers727504223
LitVarrs727504223
Maprs727504223
PheGenIrs727504223
Biobankrs727504223
1000 genomesrs727504223
hgdprs727504223
ensemblrs727504223
geneviewrs727504223
scholarrs727504223
googlers727504223
pharmgkbrs727504223
gwascentralrs727504223
openSNPrs727504223
23andMers727504223
SNPshotrs727504223
SNPdbers727504223
MSV3drs727504223
GWAS Ctlgrs727504223
Max Magnitude0
ClinVar
Risk rs727504223(-;-)
Alt rs727504223(-;-)
Reference Rs727504223(C;C)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145147130delG
CLNSRC
CLNACC RCV000154151.2,