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rs756762196

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs756762196(C;T)
Make rs756762196(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position78425054
GeneWWOX
is asnp
is mentioned by
dbSNPrs756762196
dbSNP (classic)rs756762196
ClinGenrs756762196
ebirs756762196
HLIrs756762196
Exacrs756762196
Gnomadrs756762196
Varsomers756762196
LitVarrs756762196
Maprs756762196
PheGenIrs756762196
Biobankrs756762196
1000 genomesrs756762196
hgdprs756762196
ensemblrs756762196
geneviewrs756762196
scholarrs756762196
googlers756762196
pharmgkbrs756762196
gwascentralrs756762196
openSNPrs756762196
23andMers756762196
SNPshotrs756762196
SNPdbers756762196
MSV3drs756762196
GWAS Ctlgrs756762196
Max Magnitude0
ClinVar
Risk rs756762196(T;T)
Alt rs756762196(T;T)
Reference Rs756762196(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy Spinocerebellar ataxia not provided
Variation info
Gene WWOX
CLNDBN Epileptic encephalopathy, early infantile, 1 Spinocerebellar ataxia, autosomal recessive 12 not provided
Reversed 0
HGVS NC_000016.9:g.78458951C>T
CLNSRC
CLNACC RCV000229073.2, RCV000486785.1,