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rs1057519530

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519530(C;C)
Make rs1057519530(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166052864
GeneSCN1A
is asnp
is mentioned by
dbSNPrs1057519530
dbSNP (old)rs1057519530
ClinGenrs1057519530
ebirs1057519530
HLIrs1057519530
Exacrs1057519530
Gnomadrs1057519530
Varsomers1057519530
Maprs1057519530
PheGenIrs1057519530
Biobankrs1057519530
1000 genomesrs1057519530
hgdprs1057519530
ensemblrs1057519530
gopubmedrs1057519530
geneviewrs1057519530
scholarrs1057519530
googlers1057519530
pharmgkbrs1057519530
gwascentralrs1057519530
openSNPrs1057519530
23andMers1057519530
23andMe allrs1057519530
SNPshotrs1057519530
SNPdbers1057519530
MSV3drs1057519530
GWAS Ctlgrs1057519530
Max Magnitude0
ClinVar
Risk rs1057519530(C;C)
Alt rs1057519530(C;C)
Reference Rs1057519530(T;T)
Significance Probable-Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166909374A>G
CLNSRC
CLNACC RCV000416974.1,