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rs587776603

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(AACA;AACA) 0 common in clinvar
(AACAG;AACAG) 0 common in clinvar
(I;I) 0 common genotype
(TGTT;TGTT) 0 common in clinvar
Make rs587776603(-;-)
Make rs587776603(-;TGTT)
ReferenceGRCh38 38.1/142
Chromosome2
Position144400011
GeneZEB2
is asnp
is mentioned by
dbSNPrs587776603
dbSNP (classic)rs587776603
ClinGenrs587776603
ebirs587776603
HLIrs587776603
Exacrs587776603
Gnomadrs587776603
Varsomers587776603
LitVarrs587776603
Maprs587776603
PheGenIrs587776603
Biobankrs587776603
1000 genomesrs587776603
hgdprs587776603
ensemblrs587776603
geneviewrs587776603
scholarrs587776603
googlers587776603
pharmgkbrs587776603
gwascentralrs587776603
openSNPrs587776603
23andMers587776603
SNPshotrs587776603
SNPdbers587776603
MSV3drs587776603
GWAS Ctlgrs587776603
Max Magnitude0
ClinVar
Risk Rs587776603(TGTT;TGTT) rs587776603(-;-)
Alt Rs587776603(TGTT;TGTT) rs587776603(-;-)
Reference Rs587776603(AACA;AACA)
Significance Pathogenic
Disease Mowat-Wilson syndrome
Variation info
Gene ZEB2
CLNDBN Mowat-Wilson syndrome
Reversed 1
HGVS NC_000002.11:g.145157578_145157581delTGTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000005022.2,