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rs121918751

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918751(G;G)
Make rs121918751(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165991841
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121918751
ebirs121918751
HLIrs121918751
Exacrs121918751
Varsomers121918751
Maprs121918751
PheGenIrs121918751
hapmaprs121918751
1000 genomesrs121918751
hgdprs121918751
ensemblrs121918751
gopubmedrs121918751
geneviewrs121918751
scholarrs121918751
googlers121918751
pharmgkbrs121918751
gwascentralrs121918751
openSNPrs121918751
23andMers121918751
23andMe allrs121918751
SNP Nexus

SNPshotrs121918751
SNPdbers121918751
MSV3drs121918751
GWAS Ctlgrs121918751
Max Magnitude0
ClinVar
Risk rs121918751(G;G)
Alt rs121918751(G;G)
Reference rs121918751(T;T)
Significance Probable-Pathogenic
Disease Severe myoclonic epilepsy in infancy Seizures
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy Seizures
Reversed 1
HGVS NC_000002.11:g.166848351A>C
CLNSRC UniProtKB (variants)
CLNACC RCV000059542.1, RCV000193290.1,