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rs121918763

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918763(C;G)
Make rs121918763(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165991929
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121918763
ebirs121918763
HLIrs121918763
Exacrs121918763
Varsomers121918763
Maprs121918763
PheGenIrs121918763
hapmaprs121918763
1000 genomesrs121918763
hgdprs121918763
ensemblrs121918763
gopubmedrs121918763
geneviewrs121918763
scholarrs121918763
googlers121918763
pharmgkbrs121918763
gwascentralrs121918763
openSNPrs121918763
23andMers121918763
23andMe allrs121918763
SNP Nexus

SNPshotrs121918763
SNPdbers121918763
MSV3drs121918763
GWAS Ctlgrs121918763
Max Magnitude0
ClinVar
Risk rs121918763(G,T;G,T)
Alt rs121918763(G,T;G,T)
Reference rs121918763(C;C)
Significance Other
Disease not specified Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN not specified Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166848439G>A; NC_000002.11:g.166848439G>C
CLNSRC UniProtKB (variants)
CLNACC RCV000188821.2, RCV000059539.2,