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

rs121918624

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918624(C;T)
Make rs121918624(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166052882
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918624
ebirs121918624
HLIrs121918624
Exacrs121918624
Varsomers121918624
Maprs121918624
PheGenIrs121918624
hapmaprs121918624
1000 genomesrs121918624
hgdprs121918624
ensemblrs121918624
gopubmedrs121918624
geneviewrs121918624
scholarrs121918624
googlers121918624
pharmgkbrs121918624
gwascentralrs121918624
openSNPrs121918624
23andMers121918624
23andMe allrs121918624
SNP Nexus

SNPshotrs121918624
SNPdbers121918624
MSV3drs121918624
GWAS Ctlgrs121918624
Max Magnitude0
OMIM182389
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918624(T;T)
Alt rs121918624(T;T)
Reference rs121918624(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus not provided
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 not provided
Reversed 1
HGVS NC_000002.11:g.166909392G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000032604.25, RCV000150094.3, RCV000188841.2,