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rs794726724

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTCT;TTCT) 0 common in clinvar
Make rs794726724(-;-)
Make rs794726724(-;TTCT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166052884
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726724
ebirs794726724
HLIrs794726724
Exacrs794726724
Varsomers794726724
Maprs794726724
PheGenIrs794726724
hapmaprs794726724
1000 genomesrs794726724
hgdprs794726724
ensemblrs794726724
gopubmedrs794726724
geneviewrs794726724
scholarrs794726724
googlers794726724
pharmgkbrs794726724
gwascentralrs794726724
openSNPrs794726724
23andMers794726724
23andMe allrs794726724
SNP Nexus

SNPshotrs794726724
SNPdbers794726724
MSV3drs794726724
GWAS Ctlgrs794726724
Max Magnitude0
ClinVar
Risk rs794726724(;)
Alt rs794726724(;)
Reference rs794726724(TTCT;TTCT)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166909394_166909397delAGAA
CLNSRC Peking University
CLNACC RCV000180831.1,