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rs730880291

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGAC;GGAC) 0 common in clinvar
Make rs730880291(-;-)
Make rs730880291(-;GACG)
Make rs730880291(GACG;GACG)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position78099824
GeneWWOX
is asnp
is mentioned by
dbSNPrs730880291
dbSNP (classic)rs730880291
ClinGenrs730880291
ebirs730880291
HLIrs730880291
Exacrs730880291
Gnomadrs730880291
Varsomers730880291
LitVarrs730880291
Maprs730880291
PheGenIrs730880291
Biobankrs730880291
1000 genomesrs730880291
hgdprs730880291
ensemblrs730880291
geneviewrs730880291
scholarrs730880291
googlers730880291
pharmgkbrs730880291
gwascentralrs730880291
openSNPrs730880291
23andMers730880291
SNPshotrs730880291
SNPdbers730880291
MSV3drs730880291
GWAS Ctlgrs730880291
Max Magnitude0
ClinVar
Risk rs730880291(-;-)
Alt rs730880291(-;-)
Reference Rs730880291(GGAC;GGAC)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene WWOX
CLNDBN Epileptic encephalopathy, early infantile, 28
Reversed 0
HGVS NC_000016.9:g.78133721_78133724delGACG
CLNSRC OMIM Allelic Variant
CLNACC RCV000157087.3,