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rs121918735

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918735(A;A)
Make rs121918735(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166051906
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918735
ebirs121918735
HLIrs121918735
Exacrs121918735
Varsomers121918735
Maprs121918735
PheGenIrs121918735
hapmaprs121918735
1000 genomesrs121918735
hgdprs121918735
ensemblrs121918735
gopubmedrs121918735
geneviewrs121918735
scholarrs121918735
googlers121918735
pharmgkbrs121918735
gwascentralrs121918735
openSNPrs121918735
23andMers121918735
23andMe allrs121918735
SNP Nexus

SNPshotrs121918735
SNPdbers121918735
MSV3drs121918735
GWAS Ctlgrs121918735
Max Magnitude0
ClinVar
Risk rs121918735(A,T;A,T)
Alt rs121918735(A,T;A,T)
Reference rs121918735(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166908416G>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059553.2,