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rs398123585

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123585(C;T)
Make rs398123585(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166043875
GeneSCN1A
is asnp
is mentioned by
dbSNPrs398123585
ebirs398123585
HLIrs398123585
Exacrs398123585
Varsomers398123585
Maprs398123585
PheGenIrs398123585
hapmaprs398123585
1000 genomesrs398123585
hgdprs398123585
ensemblrs398123585
gopubmedrs398123585
geneviewrs398123585
scholarrs398123585
googlers398123585
pharmgkbrs398123585
gwascentralrs398123585
openSNPrs398123585
23andMers398123585
23andMe allrs398123585
SNP Nexus

SNPshotrs398123585
SNPdbers398123585
MSV3drs398123585
GWAS Ctlgrs398123585
Max Magnitude0
ClinVar
Risk rs398123585(A,T;A,T)
Alt rs398123585(A,T;A,T)
Reference rs398123585(C;C)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166900385G>A
CLNSRC HGMD
CLNACC RCV000079562.4, RCV000174048.3,