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rs1057519533

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519533(A;T)
Make rs1057519533(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165994184
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs1057519533
dbSNP (old)rs1057519533
ClinGenrs1057519533
ebirs1057519533
HLIrs1057519533
Exacrs1057519533
Gnomadrs1057519533
Varsomers1057519533
Maprs1057519533
PheGenIrs1057519533
Biobankrs1057519533
1000 genomesrs1057519533
hgdprs1057519533
ensemblrs1057519533
gopubmedrs1057519533
geneviewrs1057519533
scholarrs1057519533
googlers1057519533
pharmgkbrs1057519533
gwascentralrs1057519533
openSNPrs1057519533
23andMers1057519533
23andMe allrs1057519533
SNPshotrs1057519533
SNPdbers1057519533
MSV3drs1057519533
GWAS Ctlgrs1057519533
Max Magnitude0
ClinVar
Risk rs1057519533(T;T)
Alt rs1057519533(T;T)
Reference Rs1057519533(A;A)
Significance Probable-Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166850694T>A
CLNSRC
CLNACC RCV000417022.1,