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rs730881217

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730881217(-;-)
Make rs730881217(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position144390023
GeneZEB2
is asnp
is mentioned by
dbSNPrs730881217
dbSNP (classic)rs730881217
ClinGenrs730881217
ebirs730881217
HLIrs730881217
Exacrs730881217
Gnomadrs730881217
Varsomers730881217
LitVarrs730881217
Maprs730881217
PheGenIrs730881217
Biobankrs730881217
1000 genomesrs730881217
hgdprs730881217
ensemblrs730881217
geneviewrs730881217
scholarrs730881217
googlers730881217
pharmgkbrs730881217
gwascentralrs730881217
openSNPrs730881217
23andMers730881217
SNPshotrs730881217
SNPdbers730881217
MSV3drs730881217
GWAS Ctlgrs730881217
Max Magnitude0
ClinVar
Risk rs730881217(-;-)
Alt rs730881217(-;-)
Reference Rs730881217(A;A)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145147590delT
CLNSRC
CLNACC RCV000159502.1,