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rs760361423

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs760361423(C;T)
Make rs760361423(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166058645
GeneSCN1A
is asnp
is mentioned by
dbSNPrs760361423
ebirs760361423
HLIrs760361423
Exacrs760361423
Varsomers760361423
Maprs760361423
PheGenIrs760361423
hapmaprs760361423
1000 genomesrs760361423
hgdprs760361423
ensemblrs760361423
gopubmedrs760361423
geneviewrs760361423
scholarrs760361423
googlers760361423
pharmgkbrs760361423
gwascentralrs760361423
openSNPrs760361423
23andMers760361423
23andMe allrs760361423
SNP Nexus

SNPshotrs760361423
SNPdbers760361423
MSV3drs760361423
GWAS Ctlgrs760361423
Max Magnitude0
ClinVar
Risk rs760361423(A,T;A,T)
Alt rs760361423(A,T;A,T)
Reference rs760361423(C;C)
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.166915155C>A
CLNSRC Peking University
CLNACC RCV000180851.1,