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rs764444350

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs764444350(C;C)
Make rs764444350(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166073501
GeneSCN1A
is asnp
is mentioned by
dbSNPrs764444350
ebirs764444350
HLIrs764444350
Exacrs764444350
Varsomers764444350
Maprs764444350
PheGenIrs764444350
hapmaprs764444350
1000 genomesrs764444350
hgdprs764444350
ensemblrs764444350
gopubmedrs764444350
geneviewrs764444350
scholarrs764444350
googlers764444350
pharmgkbrs764444350
gwascentralrs764444350
openSNPrs764444350
23andMers764444350
23andMe allrs764444350
SNP Nexus

SNPshotrs764444350
SNPdbers764444350
MSV3drs764444350
GWAS Ctlgrs764444350
Max Magnitude0
ClinVar
Risk rs764444350(A,C;A,C)
Alt rs764444350(A,C;A,C)
Reference rs764444350(T;T)
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.166930011T>A
CLNSRC Peking University
CLNACC RCV000180846.1,