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rs730880290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880290(A;A)
Make rs730880290(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position78432701
GeneWWOX
is asnp
is mentioned by
dbSNPrs730880290
dbSNP (classic)rs730880290
ClinGenrs730880290
ebirs730880290
HLIrs730880290
Exacrs730880290
Gnomadrs730880290
Varsomers730880290
LitVarrs730880290
Maprs730880290
PheGenIrs730880290
Biobankrs730880290
1000 genomesrs730880290
hgdprs730880290
ensemblrs730880290
geneviewrs730880290
scholarrs730880290
googlers730880290
pharmgkbrs730880290
gwascentralrs730880290
openSNPrs730880290
23andMers730880290
SNPshotrs730880290
SNPdbers730880290
MSV3drs730880290
GWAS Ctlgrs730880290
Max Magnitude0
ClinVar
Risk rs730880290(A;A)
Alt rs730880290(A;A)
Reference Rs730880290(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene WWOX
CLNDBN Epileptic encephalopathy, early infantile, 28
Reversed 0
HGVS NC_000016.9:g.78466598G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000157086.3,