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rs139300715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139300715(T;T)
Make rs139300715(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165996047
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs139300715
ebirs139300715
HLIrs139300715
Exacrs139300715
Varsomers139300715
Maprs139300715
PheGenIrs139300715
hapmaprs139300715
1000 genomesrs139300715
hgdprs139300715
ensemblrs139300715
gopubmedrs139300715
geneviewrs139300715
scholarrs139300715
googlers139300715
pharmgkbrs139300715
gwascentralrs139300715
openSNPrs139300715
23andMers139300715
23andMe allrs139300715
SNP Nexus

SNPshotrs139300715
SNPdbers139300715
MSV3drs139300715
GWAS Ctlgrs139300715
Max Magnitude0
ClinVar
Risk rs139300715(A,C,T;A,C,T)
Alt rs139300715(A,C,T;A,C,T)
Reference rs139300715(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.166852557G>A; NC_000002.11:g.166852557G>C; NC_000002.11:g.166852557G>T
CLNSRC Peking University
CLNACC RCV000209885.1, RCV000180875.1, RCV000188961.2,