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rs398124280

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGTACT;GGTACT) 0 common in clinvar
Make rs398124280(GGTACT;TAATG)
Make rs398124280(TAATG;TAATG)
ReferenceGRCh38 38.1/141
Chromosome2
Position144389732
GeneZEB2
is asnp
is mentioned by
dbSNPrs398124280
ebirs398124280
HLIrs398124280
Exacrs398124280
Varsomers398124280
Maprs398124280
PheGenIrs398124280
hapmaprs398124280
1000 genomesrs398124280
hgdprs398124280
ensemblrs398124280
gopubmedrs398124280
geneviewrs398124280
scholarrs398124280
googlers398124280
pharmgkbrs398124280
gwascentralrs398124280
openSNPrs398124280
23andMers398124280
23andMe allrs398124280
SNP Nexus

SNPshotrs398124280
SNPdbers398124280
MSV3drs398124280
GWAS Ctlgrs398124280
Max Magnitude0
ClinVar
Risk rs398124280(TAATG;TAATG)
Alt rs398124280(TAATG;TAATG)
Reference rs398124280(GGTACT;GGTACT)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145147299_145147304delAGTACCinsCATTA
CLNSRC ClinVar
CLNACC RCV000081669.5,