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rs1057519534

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519534(-;T)
Make rs1057519534(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166013758
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs1057519534
dbSNP (old)rs1057519534
ClinGenrs1057519534
ebirs1057519534
HLIrs1057519534
Exacrs1057519534
Gnomadrs1057519534
Varsomers1057519534
Maprs1057519534
PheGenIrs1057519534
Biobankrs1057519534
1000 genomesrs1057519534
hgdprs1057519534
ensemblrs1057519534
gopubmedrs1057519534
geneviewrs1057519534
scholarrs1057519534
googlers1057519534
pharmgkbrs1057519534
gwascentralrs1057519534
openSNPrs1057519534
23andMers1057519534
23andMe allrs1057519534
SNPshotrs1057519534
SNPdbers1057519534
MSV3drs1057519534
GWAS Ctlgrs1057519534
Max Magnitude0
ClinVar
Risk rs1057519534(T;T)
Alt rs1057519534(T;T)
Reference Rs1057519534(-;-)
Significance 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.166870269dupA
CLNSRC
CLNACC RCV000416955.1,