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rs777939538

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs777939538(C;T)
Make rs777939538(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166012225
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs777939538
ebirs777939538
HLIrs777939538
Exacrs777939538
Varsomers777939538
Maprs777939538
PheGenIrs777939538
hapmaprs777939538
1000 genomesrs777939538
hgdprs777939538
ensemblrs777939538
gopubmedrs777939538
geneviewrs777939538
scholarrs777939538
googlers777939538
pharmgkbrs777939538
gwascentralrs777939538
openSNPrs777939538
23andMers777939538
23andMe allrs777939538
SNP Nexus

SNPshotrs777939538
SNPdbers777939538
MSV3drs777939538
GWAS Ctlgrs777939538
Max Magnitude0
ClinVar
Risk rs777939538(G,T;G,T)
Alt rs777939538(G,T;G,T)
Reference rs777939538(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 0
HGVS NC_000002.11:g.166868735C>G
CLNSRC Peking University
CLNACC RCV000180832.1,