Have questions? Visit https://www.reddit.com/r/SNPedia

rs121917915

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917915(G;T)
Make rs121917915(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165994176
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917915
ebirs121917915
HLIrs121917915
Exacrs121917915
Varsomers121917915
Maprs121917915
PheGenIrs121917915
hapmaprs121917915
1000 genomesrs121917915
hgdprs121917915
ensemblrs121917915
gopubmedrs121917915
geneviewrs121917915
scholarrs121917915
googlers121917915
pharmgkbrs121917915
gwascentralrs121917915
openSNPrs121917915
23andMers121917915
23andMe allrs121917915
SNP Nexus

SNPshotrs121917915
SNPdbers121917915
MSV3drs121917915
GWAS Ctlgrs121917915
Max Magnitude0
ClinVar
Risk rs121917915(T;T)
Alt rs121917915(T;T)
Reference rs121917915(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.166850686C>A
CLNSRC UniProtKB (variants)
CLNACC RCV000059428.2,