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rs730881215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACGAGTCCAGCTA;ACGAGTCCAGCTA) 0 common in clinvar
Make rs730881215(ACGAGTCCAGCTA;GTT)
Make rs730881215(GTT;GTT)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position144429910
GeneZEB2
is asnp
is mentioned by
dbSNPrs730881215
dbSNP (classic)rs730881215
ClinGenrs730881215
ebirs730881215
HLIrs730881215
Exacrs730881215
Gnomadrs730881215
Varsomers730881215
LitVarrs730881215
Maprs730881215
PheGenIrs730881215
Biobankrs730881215
1000 genomesrs730881215
hgdprs730881215
ensemblrs730881215
geneviewrs730881215
scholarrs730881215
googlers730881215
pharmgkbrs730881215
gwascentralrs730881215
openSNPrs730881215
23andMers730881215
SNPshotrs730881215
SNPdbers730881215
MSV3drs730881215
GWAS Ctlgrs730881215
Max Magnitude0
ClinVar
Risk rs730881215(GTT;GTT)
Alt rs730881215(GTT;GTT)
Reference Rs730881215(ACGAGTCCAGCTA;ACGAGTCCAGCTA)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145187477_145187489delTAGCTGGACTCGTinsAAC
CLNSRC
CLNACC RCV000159498.1,