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rs121918773

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918773(C;C)
Make rs121918773(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166054672
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918773
ebirs121918773
HLIrs121918773
Exacrs121918773
Varsomers121918773
Maprs121918773
PheGenIrs121918773
hapmaprs121918773
1000 genomesrs121918773
hgdprs121918773
ensemblrs121918773
gopubmedrs121918773
geneviewrs121918773
scholarrs121918773
googlers121918773
pharmgkbrs121918773
gwascentralrs121918773
openSNPrs121918773
23andMers121918773
23andMe allrs121918773
SNP Nexus

SNPshotrs121918773
SNPdbers121918773
MSV3drs121918773
GWAS Ctlgrs121918773
Max Magnitude0
ClinVar
Risk rs121918773(C;C)
Alt rs121918773(C;C)
Reference rs121918773(T;T)
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.166911182A>G
CLNSRC UniProtKB (variants)
CLNACC RCV000059548.2,