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rs587777248

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777248(C;T)
Make rs587777248(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position78108475
GeneWWOX
is asnp
is mentioned by
dbSNPrs587777248
dbSNP (classic)rs587777248
ClinGenrs587777248
ebirs587777248
HLIrs587777248
Exacrs587777248
Gnomadrs587777248
Varsomers587777248
LitVarrs587777248
Maprs587777248
PheGenIrs587777248
Biobankrs587777248
1000 genomesrs587777248
hgdprs587777248
ensemblrs587777248
geneviewrs587777248
scholarrs587777248
googlers587777248
pharmgkbrs587777248
gwascentralrs587777248
openSNPrs587777248
23andMers587777248
SNPshotrs587777248
SNPdbers587777248
MSV3drs587777248
GWAS Ctlgrs587777248
Max Magnitude0
ClinVar
Risk rs587777248(A;A) rs587777248(T;T)
Alt rs587777248(A;A) rs587777248(T;T)
Reference Rs587777248(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene WWOX
CLNDBN Epileptic encephalopathy, early infantile, 28
Reversed 0
HGVS NC_000016.9:g.78142372C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000106406.3,