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rs398123595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123595(C;C)
Make rs398123595(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166002470
GeneSCN1A
is asnp
is mentioned by
dbSNPrs398123595
ClinGenrs398123595
ebirs398123595
HLIrs398123595
Exacrs398123595
Varsomers398123595
Maprs398123595
PheGenIrs398123595
hapmaprs398123595
1000 genomesrs398123595
hgdprs398123595
ensemblrs398123595
gopubmedrs398123595
geneviewrs398123595
scholarrs398123595
googlers398123595
pharmgkbrs398123595
gwascentralrs398123595
openSNPrs398123595
23andMers398123595
23andMe allrs398123595
SNP Nexus

SNPshotrs398123595
SNPdbers398123595
MSV3drs398123595
GWAS Ctlgrs398123595
Max Magnitude0
ClinVar
Risk rs398123595(C;C)
Alt rs398123595(C;C)
Reference Rs398123595(T;T)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166858980A>G
CLNSRC HGMD
CLNACC RCV000079583.4, RCV000176178.1,