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rs794726750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794726750(-;-)
Make rs794726750(-;GACC)
Make rs794726750(GACC;GACC)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166041343
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726750
ebirs794726750
HLIrs794726750
Exacrs794726750
Varsomers794726750
Maprs794726750
PheGenIrs794726750
hapmaprs794726750
1000 genomesrs794726750
hgdprs794726750
ensemblrs794726750
gopubmedrs794726750
geneviewrs794726750
scholarrs794726750
googlers794726750
pharmgkbrs794726750
gwascentralrs794726750
openSNPrs794726750
23andMers794726750
23andMe allrs794726750
SNP Nexus

SNPshotrs794726750
SNPdbers794726750
MSV3drs794726750
GWAS Ctlgrs794726750
Max Magnitude0
ClinVar
Risk rs794726750(GACC;GACC)
Alt rs794726750(GACC;GACC)
Reference rs794726750(;)
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.166897854_166897857dupGGTC
CLNSRC Peking University
CLNACC RCV000180861.1,