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rs796053335

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs796053335(-;GCATGC)
Make rs796053335(GCATGC;GCATGC)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position128632292
GeneSPTAN1
is asnp
is mentioned by
dbSNPrs796053335
dbSNP (old)rs796053335
ClinGenrs796053335
ebirs796053335
HLIrs796053335
Exacrs796053335
Gnomadrs796053335
Varsomers796053335
Maprs796053335
PheGenIrs796053335
Biobankrs796053335
1000 genomesrs796053335
hgdprs796053335
ensemblrs796053335
gopubmedrs796053335
geneviewrs796053335
scholarrs796053335
googlers796053335
pharmgkbrs796053335
gwascentralrs796053335
openSNPrs796053335
23andMers796053335
23andMe allrs796053335
SNP Nexus

SNPshotrs796053335
SNPdbers796053335
MSV3drs796053335
GWAS Ctlgrs796053335
Max Magnitude0
ClinVar
Risk rs796053335(GCATGC;GCATGC)
Alt rs796053335(GCATGC;GCATGC)
Reference Rs796053335(-;-)
Significance Pathogenic
Disease not provided Epileptic encephalopathy
Variation info
Gene SPTAN1
CLNDBN not provided Epileptic encephalopathy
Reversed 0
HGVS NC_000009.11:g.131394566_131394571dupGCATGC
CLNSRC
CLNACC RCV000189545.1, RCV000416988.1,