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rs587776612

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776612(C;T)
Make rs587776612(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position144517420
GeneZEB2
is asnp
is mentioned by
dbSNPrs587776612
ebirs587776612
HLIrs587776612
Exacrs587776612
Varsomers587776612
Maprs587776612
PheGenIrs587776612
hapmaprs587776612
1000 genomesrs587776612
hgdprs587776612
ensemblrs587776612
gopubmedrs587776612
geneviewrs587776612
scholarrs587776612
googlers587776612
pharmgkbrs587776612
gwascentralrs587776612
openSNPrs587776612
23andMers587776612
23andMe allrs587776612
SNP Nexus

SNPshotrs587776612
SNPdbers587776612
MSV3drs587776612
GWAS Ctlgrs587776612
Max Magnitude0
ClinVar
Risk rs587776612(C,T;C,T)
Alt rs587776612(C,T;C,T)
Reference rs587776612(G;G)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145274987C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005033.3,