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rs104894718

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894718(C;G)
Make rs104894718(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35033654
GeneSCN1B
is asnp
is mentioned by
dbSNPrs104894718
dbSNP (classic)rs104894718
ClinGenrs104894718
ebirs104894718
HLIrs104894718
Exacrs104894718
Gnomadrs104894718
Varsomers104894718
LitVarrs104894718
Maprs104894718
PheGenIrs104894718
Biobankrs104894718
1000 genomesrs104894718
hgdprs104894718
ensemblrs104894718
geneviewrs104894718
scholarrs104894718
googlers104894718
pharmgkbrs104894718
gwascentralrs104894718
openSNPrs104894718
23andMers104894718
SNPshotrs104894718
SNPdbers104894718
MSV3drs104894718
GWAS Ctlgrs104894718
GMAF0.0004591
Max Magnitude0
OMIM600235
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894718(G;G) rs104894718(T;T)
Alt rs104894718(G;G) rs104894718(T;T)
Reference Rs104894718(C;C)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus Generalized epilepsy with febrile seizures plus not provided Atrial fibrillation
Variation info
Gene SCN1B
CLNDBN Generalized epilepsy with febrile seizures plus, type 1 Generalized epilepsy with febrile seizures plus not provided Atrial fibrillation, familial, 13
Reversed 0
HGVS NC_000019.9:g.35524558C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009834.7, RCV000030434.1, RCV000171041.4, RCV000184010.1,