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rs121918742

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918742(A;A)
Make rs121918742(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165994241
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121918742
ebirs121918742
HLIrs121918742
Exacrs121918742
Varsomers121918742
Maprs121918742
PheGenIrs121918742
hapmaprs121918742
1000 genomesrs121918742
hgdprs121918742
ensemblrs121918742
gopubmedrs121918742
geneviewrs121918742
scholarrs121918742
googlers121918742
pharmgkbrs121918742
gwascentralrs121918742
openSNPrs121918742
23andMers121918742
23andMe allrs121918742
SNP Nexus

SNPshotrs121918742
SNPdbers121918742
MSV3drs121918742
GWAS Ctlgrs121918742
Max Magnitude0
ClinVar
Risk rs121918742(A,C;A,C)
Alt rs121918742(A,C;A,C)
Reference rs121918742(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.166850751C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059516.2,