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rs121917978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917978(C;G)
Make rs121917978(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165992113
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917978
ebirs121917978
HLIrs121917978
Exacrs121917978
Varsomers121917978
Maprs121917978
PheGenIrs121917978
hapmaprs121917978
1000 genomesrs121917978
hgdprs121917978
ensemblrs121917978
gopubmedrs121917978
geneviewrs121917978
scholarrs121917978
googlers121917978
pharmgkbrs121917978
gwascentralrs121917978
openSNPrs121917978
23andMers121917978
23andMe allrs121917978
SNP Nexus

SNPshotrs121917978
SNPdbers121917978
MSV3drs121917978
GWAS Ctlgrs121917978
Max Magnitude0
ClinVar
Risk rs121917978(A,G;A,G)
Alt rs121917978(A,G;A,G)
Reference rs121917978(C;C)
Significance 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.166848623G>C; NC_000002.11:g.166848623G>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059441.1, RCV000188993.2,