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rs796053359

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 8 Early infantile epileptic encephalopathy, type 4
Make rs796053359(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127666205
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs796053359
dbSNP (old)rs796053359
ClinGenrs796053359
ebirs796053359
HLIrs796053359
Exacrs796053359
Gnomadrs796053359
Varsomers796053359
Maprs796053359
PheGenIrs796053359
Biobankrs796053359
1000 genomesrs796053359
hgdprs796053359
ensemblrs796053359
gopubmedrs796053359
geneviewrs796053359
scholarrs796053359
googlers796053359
pharmgkbrs796053359
gwascentralrs796053359
openSNPrs796053359
23andMers796053359
23andMe allrs796053359
SNP Nexus

SNPshotrs796053359
SNPdbers796053359
MSV3drs796053359
GWAS Ctlgrs796053359
Max Magnitude8
ClinVar
Risk rs796053359(G;G) rs796053359(T;T)
Alt rs796053359(G;G) rs796053359(T;T)
Reference Rs796053359(C;C)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy 4
Variation info
Gene STXBP1
CLNDBN not provided Early infantile epileptic encephalopathy 4
Reversed 0
HGVS NC_000009.11:g.130428484C>T
CLNSRC
CLNACC RCV000189604.2, RCV000415997.1,