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rs121917960

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917960(A;A)
Make rs121917960(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166002753
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917960
ebirs121917960
HLIrs121917960
Exacrs121917960
Varsomers121917960
Maprs121917960
PheGenIrs121917960
hapmaprs121917960
1000 genomesrs121917960
hgdprs121917960
ensemblrs121917960
gopubmedrs121917960
geneviewrs121917960
scholarrs121917960
googlers121917960
pharmgkbrs121917960
gwascentralrs121917960
openSNPrs121917960
23andMers121917960
23andMe allrs121917960
SNP Nexus

SNPshotrs121917960
SNPdbers121917960
MSV3drs121917960
GWAS Ctlgrs121917960
Max Magnitude0
ClinVar
Risk rs121917960(A;A)
Alt rs121917960(A;A)
Reference rs121917960(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.166859263C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059408.2,