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rs121917974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917974(C;C)
Make rs121917974(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165999740
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917974
dbSNP (old)rs121917974
ClinGenrs121917974
ebirs121917974
HLIrs121917974
Exacrs121917974
Gnomadrs121917974
Varsomers121917974
LitVarrs121917974
Maprs121917974
PheGenIrs121917974
Biobankrs121917974
1000 genomesrs121917974
hgdprs121917974
ensemblrs121917974
gopubmedrs121917974
geneviewrs121917974
scholarrs121917974
googlers121917974
pharmgkbrs121917974
gwascentralrs121917974
openSNPrs121917974
23andMers121917974
23andMe allrs121917974
SNPshotrs121917974
SNPdbers121917974
MSV3drs121917974
GWAS Ctlgrs121917974
Max Magnitude0
ClinVar
Risk rs121917974(A;A) rs121917974(C;C)
Alt rs121917974(A;A) rs121917974(C;C)
Reference Rs121917974(G;G)
Significance Probable-Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 1
HGVS NC_000002.11:g.166856250C>G; NC_000002.11:g.166856250C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059417.1, RCV000413422.1,