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rs779614747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs779614747(G;T)
Make rs779614747(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165991619
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs779614747
ebirs779614747
HLIrs779614747
Exacrs779614747
Varsomers779614747
Maprs779614747
PheGenIrs779614747
hapmaprs779614747
1000 genomesrs779614747
hgdprs779614747
ensemblrs779614747
gopubmedrs779614747
geneviewrs779614747
scholarrs779614747
googlers779614747
pharmgkbrs779614747
gwascentralrs779614747
openSNPrs779614747
23andMers779614747
23andMe allrs779614747
SNP Nexus

SNPshotrs779614747
SNPdbers779614747
MSV3drs779614747
GWAS Ctlgrs779614747
Max Magnitude0
ClinVar
Risk rs779614747(A,T;A,T)
Alt rs779614747(A,T;A,T)
Reference rs779614747(G;G)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 0
HGVS NC_000002.11:g.166848129G>A
CLNSRC Quest Diagnostics
CLNACC RCV000180864.2, RCV000189014.1,