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rs121917908

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917908(A;A)
Make rs121917908(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165999764
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917908
ebirs121917908
HLIrs121917908
Exacrs121917908
Varsomers121917908
Maprs121917908
PheGenIrs121917908
hapmaprs121917908
1000 genomesrs121917908
hgdprs121917908
ensemblrs121917908
gopubmedrs121917908
geneviewrs121917908
scholarrs121917908
googlers121917908
pharmgkbrs121917908
gwascentralrs121917908
openSNPrs121917908
23andMers121917908
23andMe allrs121917908
SNP Nexus

SNPshotrs121917908
SNPdbers121917908
MSV3drs121917908
GWAS Ctlgrs121917908
Max Magnitude0
ClinVar
Risk rs121917908(A,C;A,C)
Alt rs121917908(A,C;A,C)
Reference rs121917908(G;G)
Significance Pathogenic
Disease not provided Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN not provided Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166856274C>G; NC_000002.11:g.166856274C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000188935.1, RCV000059416.1,