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rs730880292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880292(C;G)
Make rs730880292(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position78108455
GeneWWOX
is asnp
is mentioned by
dbSNPrs730880292
dbSNP (classic)rs730880292
ClinGenrs730880292
ebirs730880292
HLIrs730880292
Exacrs730880292
Gnomadrs730880292
Varsomers730880292
LitVarrs730880292
Maprs730880292
PheGenIrs730880292
Biobankrs730880292
1000 genomesrs730880292
hgdprs730880292
ensemblrs730880292
geneviewrs730880292
scholarrs730880292
googlers730880292
pharmgkbrs730880292
gwascentralrs730880292
openSNPrs730880292
23andMers730880292
SNPshotrs730880292
SNPdbers730880292
MSV3drs730880292
GWAS Ctlgrs730880292
Max Magnitude0
ClinVar
Risk rs730880292(G;G)
Alt rs730880292(G;G)
Reference Rs730880292(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene WWOX
CLNDBN Epileptic encephalopathy, early infantile, 28
Reversed 0
HGVS NC_000016.9:g.78142352C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000157088.3,