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rs796053004

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796053004(C;T)
Make rs796053004(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166009736
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs796053004
ebirs796053004
HLIrs796053004
Exacrs796053004
Varsomers796053004
Maprs796053004
PheGenIrs796053004
hapmaprs796053004
1000 genomesrs796053004
hgdprs796053004
ensemblrs796053004
gopubmedrs796053004
geneviewrs796053004
scholarrs796053004
googlers796053004
pharmgkbrs796053004
gwascentralrs796053004
openSNPrs796053004
23andMers796053004
23andMe allrs796053004
SNP Nexus

SNPshotrs796053004
SNPdbers796053004
MSV3drs796053004
GWAS Ctlgrs796053004
Max Magnitude0
ClinVar
Risk rs796053004(T;T)
Alt rs796053004(T;T)
Reference rs796053004(C;C)
Significance Pathogenic
Disease not provided Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN not provided Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166866246G>A
CLNSRC Quest Diagnostics
CLNACC RCV000188938.1, RCV000201135.1,