Have questions? Visit https://www.reddit.com/r/SNPedia

rs794727003

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727003(A;A)
Make rs794727003(A;C)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position165313903
GeneSCN2A
is asnp
is mentioned by
dbSNPrs794727003
dbSNP (classic)rs794727003
ClinGenrs794727003
ebirs794727003
HLIrs794727003
Exacrs794727003
Gnomadrs794727003
Varsomers794727003
LitVarrs794727003
Maprs794727003
PheGenIrs794727003
Biobankrs794727003
1000 genomesrs794727003
hgdprs794727003
ensemblrs794727003
geneviewrs794727003
scholarrs794727003
googlers794727003
pharmgkbrs794727003
gwascentralrs794727003
openSNPrs794727003
23andMers794727003
23andMe allrs794727003
SNPshotrs794727003
SNPdbers794727003
MSV3drs794727003
GWAS Ctlgrs794727003
Max Magnitude0
ClinVar
Risk rs794727003(A;A)
Alt rs794727003(A;A)
Reference Rs794727003(C;C)
Significance Probable-Pathogenic
Disease not provided Benign familial neonatal-infantile seizures Early infantile epileptic encephalopathy 11
Variation info
Gene SCN2A
CLNDBN not provided Benign familial neonatal-infantile seizures Early infantile epileptic encephalopathy 11
Reversed 0
HGVS NC_000002.11:g.166170413C>A
CLNSRC
CLNACC RCV000173890.1, RCV000364025.1, RCV000404773.1,