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rs121917971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917971(A;A)
Make rs121917971(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166037885
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917971
ebirs121917971
HLIrs121917971
Exacrs121917971
Varsomers121917971
Maprs121917971
PheGenIrs121917971
hapmaprs121917971
1000 genomesrs121917971
hgdprs121917971
ensemblrs121917971
gopubmedrs121917971
geneviewrs121917971
scholarrs121917971
googlers121917971
pharmgkbrs121917971
gwascentralrs121917971
openSNPrs121917971
23andMers121917971
23andMe allrs121917971
SNP Nexus

SNPshotrs121917971
SNPdbers121917971
MSV3drs121917971
GWAS Ctlgrs121917971
Max Magnitude0
ClinVar
Risk rs121917971(A,C;A,C)
Alt rs121917971(A,C;A,C)
Reference rs121917971(G;G)
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.166894395C>G; NC_000002.11:g.166894395C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000180835.1, RCV000059395.2,