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rs121917914

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917914(A;A)
Make rs121917914(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165992387
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917914
ebirs121917914
HLIrs121917914
Exacrs121917914
Varsomers121917914
Maprs121917914
PheGenIrs121917914
hapmaprs121917914
1000 genomesrs121917914
hgdprs121917914
ensemblrs121917914
gopubmedrs121917914
geneviewrs121917914
scholarrs121917914
googlers121917914
pharmgkbrs121917914
gwascentralrs121917914
openSNPrs121917914
23andMers121917914
23andMe allrs121917914
SNP Nexus

SNPshotrs121917914
SNPdbers121917914
MSV3drs121917914
GWAS Ctlgrs121917914
Max Magnitude0
ClinVar
Risk rs121917914(A;A)
Alt rs121917914(A;A)
Reference rs121917914(G;G)
Significance Untested
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166848897C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059430.1,