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rs727504228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504228(G;T)
Make rs727504228(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position144429820
GeneZEB2
is asnp
is mentioned by
dbSNPrs727504228
dbSNP (classic)rs727504228
ClinGenrs727504228
ebirs727504228
HLIrs727504228
Exacrs727504228
Gnomadrs727504228
Varsomers727504228
LitVarrs727504228
Maprs727504228
PheGenIrs727504228
Biobankrs727504228
1000 genomesrs727504228
hgdprs727504228
ensemblrs727504228
geneviewrs727504228
scholarrs727504228
googlers727504228
pharmgkbrs727504228
gwascentralrs727504228
openSNPrs727504228
23andMers727504228
SNPshotrs727504228
SNPdbers727504228
MSV3drs727504228
GWAS Ctlgrs727504228
Max Magnitude0
ClinVar
Risk rs727504228(T;T)
Alt rs727504228(T;T)
Reference Rs727504228(G;G)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145187387C>A
CLNSRC
CLNACC RCV000154160.3,