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rs773407463

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs773407463(A;G)
Make rs773407463(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166051936
GeneSCN1A
is asnp
is mentioned by
dbSNPrs773407463
dbSNP (classic)rs773407463
ClinGenrs773407463
ebirs773407463
HLIrs773407463
Exacrs773407463
Gnomadrs773407463
Varsomers773407463
LitVarrs773407463
Maprs773407463
PheGenIrs773407463
Biobankrs773407463
1000 genomesrs773407463
hgdprs773407463
ensemblrs773407463
geneviewrs773407463
scholarrs773407463
googlers773407463
pharmgkbrs773407463
gwascentralrs773407463
openSNPrs773407463
23andMers773407463
SNPshotrs773407463
SNPdbers773407463
MSV3drs773407463
GWAS Ctlgrs773407463
Max Magnitude0
ClinVar
Risk rs773407463(C;C) rs773407463(G;G)
Alt rs773407463(C;C) rs773407463(G;G)
Reference Rs773407463(A;A)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 0
HGVS NC_000002.11:g.166908446A>C
CLNSRC Peking University
CLNACC RCV000180938.1,