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rs730882215

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882215(A;A)
Make rs730882215(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position78424869
GeneWWOX
is asnp
is mentioned by
dbSNPrs730882215
dbSNP (old)rs730882215
ClinGenrs730882215
ebirs730882215
HLIrs730882215
Exacrs730882215
Gnomadrs730882215
Varsomers730882215
Maprs730882215
PheGenIrs730882215
Biobankrs730882215
1000 genomesrs730882215
hgdprs730882215
ensemblrs730882215
gopubmedrs730882215
geneviewrs730882215
scholarrs730882215
googlers730882215
pharmgkbrs730882215
gwascentralrs730882215
openSNPrs730882215
23andMers730882215
23andMe allrs730882215
SNP Nexus

SNPshotrs730882215
SNPdbers730882215
MSV3drs730882215
GWAS Ctlgrs730882215
Max Magnitude0
ClinVar
Risk rs730882215(A;A)
Alt rs730882215(A;A)
Reference Rs730882215(G;G)
Significance Probable-Pathogenic
Disease Abnormal facial shape Brain atrophy Global developmental delay Epileptic encephalopathy
Variation info
Gene WWOX
CLNDBN Abnormal facial shape Brain atrophy Global developmental delay Epileptic encephalopathy, early infantile, 28
Reversed 0
HGVS NC_000016.9:g.78458766G>A
CLNSRC
CLNACC RCV000162124.1, RCV000408849.1,