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rs121917959

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917959(C;C)
Make rs121917959(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position166058599
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917959
dbSNP (old)rs121917959
ClinGenrs121917959
ebirs121917959
HLIrs121917959
Exacrs121917959
Gnomadrs121917959
Varsomers121917959
Maprs121917959
PheGenIrs121917959
Biobankrs121917959
1000 genomesrs121917959
hgdprs121917959
ensemblrs121917959
gopubmedrs121917959
geneviewrs121917959
scholarrs121917959
googlers121917959
pharmgkbrs121917959
gwascentralrs121917959
openSNPrs121917959
23andMers121917959
23andMe allrs121917959
SNPshotrs121917959
SNPdbers121917959
MSV3drs121917959
GWAS Ctlgrs121917959
Max Magnitude0
ClinVar
Risk rs121917959(A;A) rs121917959(C;C) rs121917959(T;T)
Alt rs121917959(A;A) rs121917959(C;C) rs121917959(T;T)
Reference Rs121917959(G;G)
Significance Pathogenic
Disease not provided Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN not provided Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166915109C>A; NC_000002.11:g.166915109C>G
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000364532.1, RCV000059401.1,