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rs794727786

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727786(-;-)
Make rs794727786(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166051853
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794727786
dbSNP (classic)rs794727786
ClinGenrs794727786
ebirs794727786
HLIrs794727786
Exacrs794727786
Gnomadrs794727786
Varsomers794727786
LitVarrs794727786
Maprs794727786
PheGenIrs794727786
Biobankrs794727786
1000 genomesrs794727786
hgdprs794727786
ensemblrs794727786
geneviewrs794727786
scholarrs794727786
googlers794727786
pharmgkbrs794727786
gwascentralrs794727786
openSNPrs794727786
23andMers794727786
SNPshotrs794727786
SNPdbers794727786
MSV3drs794727786
GWAS Ctlgrs794727786
Max Magnitude0
ClinVar
Risk rs794727786(-;-)
Alt rs794727786(-;-)
Reference Rs794727786(G;G)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166908363delC
CLNSRC
CLNACC RCV000179375.1, RCV000283533.1,