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rs794727487

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727487(-;-)
Make rs794727487(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position35033638
GeneSCN1B
is asnp
is mentioned by
dbSNPrs794727487
dbSNP (classic)rs794727487
ClinGenrs794727487
ebirs794727487
HLIrs794727487
Exacrs794727487
Gnomadrs794727487
Varsomers794727487
LitVarrs794727487
Maprs794727487
PheGenIrs794727487
Biobankrs794727487
1000 genomesrs794727487
hgdprs794727487
ensemblrs794727487
geneviewrs794727487
scholarrs794727487
googlers794727487
pharmgkbrs794727487
gwascentralrs794727487
openSNPrs794727487
23andMers794727487
SNPshotrs794727487
SNPdbers794727487
MSV3drs794727487
GWAS Ctlgrs794727487
Max Magnitude0
ClinVar
Risk rs794727487(-;-)
Alt rs794727487(-;-)
Reference Rs794727487(C;C)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus
Variation info
Gene SCN1B
CLNDBN Generalized epilepsy with febrile seizures plus, type 1
Reversed 0
HGVS NC_000019.9:g.35524542delC
CLNSRC
CLNACC RCV000177106.1,