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rs111724246

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111724246(G;T)
Make rs111724246(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position144404063
GeneZEB2
is asnp
is mentioned by
dbSNPrs111724246
dbSNP (classic)rs111724246
ClinGenrs111724246
ebirs111724246
HLIrs111724246
Exacrs111724246
Gnomadrs111724246
Varsomers111724246
LitVarrs111724246
Maprs111724246
PheGenIrs111724246
Biobankrs111724246
1000 genomesrs111724246
hgdprs111724246
ensemblrs111724246
geneviewrs111724246
scholarrs111724246
googlers111724246
pharmgkbrs111724246
gwascentralrs111724246
openSNPrs111724246
23andMers111724246
SNPshotrs111724246
SNPdbers111724246
MSV3drs111724246
GWAS Ctlgrs111724246
Max Magnitude0
ClinVar
Risk rs111724246(C;C) rs111724246(T;T)
Alt rs111724246(C;C) rs111724246(T;T)
Reference Rs111724246(G;G)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 0
HGVS NC_000002.11:g.145161630G>C
CLNSRC
CLNACC RCV000169702.1,