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rs121917986

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917986(A;A)
Make rs121917986(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166002588
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917986
ebirs121917986
HLIrs121917986
Exacrs121917986
Varsomers121917986
Maprs121917986
PheGenIrs121917986
hapmaprs121917986
1000 genomesrs121917986
hgdprs121917986
ensemblrs121917986
gopubmedrs121917986
geneviewrs121917986
scholarrs121917986
googlers121917986
pharmgkbrs121917986
gwascentralrs121917986
openSNPrs121917986
23andMers121917986
23andMe allrs121917986
SNP Nexus

SNPshotrs121917986
SNPdbers121917986
MSV3drs121917986
GWAS Ctlgrs121917986
Max Magnitude0
ClinVar
Risk rs121917986(A,C;A,C)
Alt rs121917986(A,C;A,C)
Reference rs121917986(G;G)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166859098C>G; NC_000002.11:g.166859098C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000180970.1, RCV000059411.2,