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rs121918788

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918788(C;T)
Make rs121918788(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166037931
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918788
ebirs121918788
HLIrs121918788
Exacrs121918788
Varsomers121918788
Maprs121918788
PheGenIrs121918788
hapmaprs121918788
1000 genomesrs121918788
hgdprs121918788
ensemblrs121918788
gopubmedrs121918788
geneviewrs121918788
scholarrs121918788
googlers121918788
pharmgkbrs121918788
gwascentralrs121918788
openSNPrs121918788
23andMers121918788
23andMe allrs121918788
SNP Nexus

SNPshotrs121918788
SNPdbers121918788
MSV3drs121918788
GWAS Ctlgrs121918788
Max Magnitude0
ClinVar
Risk rs121918788(T;T)
Alt rs121918788(T;T)
Reference rs121918788(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus not provided
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 not provided
Reversed 1
HGVS NC_000002.11:g.166894441G>A
CLNSRC HGMD UniProtKB (variants)
CLNACC RCV000059475.4, RCV000153894.3, RCV000188897.1,