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rs372098964

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs372098964(C;C)
Make rs372098964(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165991739
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs372098964
ebirs372098964
HLIrs372098964
Exacrs372098964
Varsomers372098964
Maprs372098964
PheGenIrs372098964
hapmaprs372098964
1000 genomesrs372098964
hgdprs372098964
ensemblrs372098964
gopubmedrs372098964
geneviewrs372098964
scholarrs372098964
googlers372098964
pharmgkbrs372098964
gwascentralrs372098964
openSNPrs372098964
23andMers372098964
23andMe allrs372098964
SNP Nexus

SNPshotrs372098964
SNPdbers372098964
MSV3drs372098964
GWAS Ctlgrs372098964
Max Magnitude0
ClinVar
Risk rs372098964(A,C;A,C)
Alt rs372098964(A,C;A,C)
Reference rs372098964(T;T)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 0
HGVS NC_000002.11:g.166848249T>A
CLNSRC Peking University
CLNACC RCV000180812.1,