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rs397515448

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515448(C;C)
Make rs397515448(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position144389885
GeneZEB2
is asnp
is mentioned by
dbSNPrs397515448
dbSNP (classic)rs397515448
ClinGenrs397515448
ebirs397515448
HLIrs397515448
Exacrs397515448
Gnomadrs397515448
Varsomers397515448
LitVarrs397515448
Maprs397515448
PheGenIrs397515448
Biobankrs397515448
1000 genomesrs397515448
hgdprs397515448
ensemblrs397515448
geneviewrs397515448
scholarrs397515448
googlers397515448
pharmgkbrs397515448
gwascentralrs397515448
openSNPrs397515448
23andMers397515448
SNPshotrs397515448
SNPdbers397515448
MSV3drs397515448
GWAS Ctlgrs397515448
Max Magnitude0
ClinVar
Risk rs397515448(C;C)
Alt rs397515448(C;C)
Reference Rs397515448(T;T)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145147452A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000050218.6,