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rs121918784

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918784(C;T)
Make rs121918784(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position166039437
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918784
dbSNP (old)rs121918784
ClinGenrs121918784
ebirs121918784
HLIrs121918784
Exacrs121918784
Gnomadrs121918784
Varsomers121918784
Maprs121918784
PheGenIrs121918784
Biobankrs121918784
1000 genomesrs121918784
hgdprs121918784
ensemblrs121918784
gopubmedrs121918784
geneviewrs121918784
scholarrs121918784
googlers121918784
pharmgkbrs121918784
gwascentralrs121918784
openSNPrs121918784
23andMers121918784
23andMe allrs121918784
SNPshotrs121918784
SNPdbers121918784
MSV3drs121918784
GWAS Ctlgrs121918784
Max Magnitude0
ClinVar
Risk rs121918784(T;T)
Alt rs121918784(T;T)
Reference Rs121918784(C;C)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus not provided
Variation info
Gene SCN1A
CLNDBN Generalized epilepsy with febrile seizures plus, type 1 not provided
Reversed 1
HGVS NC_000002.11:g.166895947G>A
CLNSRC UniProtKB (variants)
CLNACC RCV000059468.1, RCV000255099.1,