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rs794727792

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727792(C;T)
Make rs794727792(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127661140
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs794727792
ebirs794727792
HLIrs794727792
Exacrs794727792
Varsomers794727792
Maprs794727792
PheGenIrs794727792
hapmaprs794727792
1000 genomesrs794727792
hgdprs794727792
ensemblrs794727792
gopubmedrs794727792
geneviewrs794727792
scholarrs794727792
googlers794727792
pharmgkbrs794727792
gwascentralrs794727792
openSNPrs794727792
23andMers794727792
23andMe allrs794727792
SNP Nexus

SNPshotrs794727792
SNPdbers794727792
MSV3drs794727792
GWAS Ctlgrs794727792
Max Magnitude0
ClinVar
Risk rs794727792(T;T)
Alt rs794727792(T;T)
Reference rs794727792(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 4 not provided
Variation info
Gene STXBP1
CLNDBN Early infantile epileptic encephalopathy 4 not provided
Reversed 0
HGVS NC_000009.11:g.130423419C>T
CLNSRC
CLNACC RCV000179420.1, RCV000189595.2,