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rs121918805

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918805(A;A)
Make rs121918805(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166002660
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121918805
dbSNP (old)rs121918805
ClinGenrs121918805
ebirs121918805
HLIrs121918805
Exacrs121918805
Gnomadrs121918805
Varsomers121918805
Maprs121918805
PheGenIrs121918805
Biobankrs121918805
1000 genomesrs121918805
hgdprs121918805
ensemblrs121918805
gopubmedrs121918805
geneviewrs121918805
scholarrs121918805
googlers121918805
pharmgkbrs121918805
gwascentralrs121918805
openSNPrs121918805
23andMers121918805
23andMe allrs121918805
SNP Nexus

SNPshotrs121918805
SNPdbers121918805
MSV3drs121918805
GWAS Ctlgrs121918805
Max Magnitude0
ClinVar
Risk rs121918805(A;A) rs121918805(T;T)
Alt rs121918805(A;A) rs121918805(T;T)
Reference Rs121918805(G;G)
Significance Probable-Pathogenic
Disease not provided Generalized epilepsy with febrile seizures plus
Variation info
Gene LOC102724058 SCN1A
CLNDBN not provided Generalized epilepsy with febrile seizures plus, type 1
Reversed 1
HGVS NC_000002.11:g.166859170C>A; NC_000002.11:g.166859170C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000482328.1, RCV000059506.1,