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rs121918741

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918741(A;A)
Make rs121918741(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165999763
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121918741
ebirs121918741
HLIrs121918741
Exacrs121918741
Varsomers121918741
Maprs121918741
PheGenIrs121918741
hapmaprs121918741
1000 genomesrs121918741
hgdprs121918741
ensemblrs121918741
gopubmedrs121918741
geneviewrs121918741
scholarrs121918741
googlers121918741
pharmgkbrs121918741
gwascentralrs121918741
openSNPrs121918741
23andMers121918741
23andMe allrs121918741
SNP Nexus

SNPshotrs121918741
SNPdbers121918741
MSV3drs121918741
GWAS Ctlgrs121918741
Max Magnitude0
ClinVar
Risk rs121918741(A;A)
Alt rs121918741(A;A)
Reference rs121918741(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.166856273C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059509.2,