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rs1057518671

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518671(C;C)
Make rs1057518671(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165991924
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs1057518671
dbSNP (old)rs1057518671
ClinGenrs1057518671
ebirs1057518671
HLIrs1057518671
Exacrs1057518671
Gnomadrs1057518671
Varsomers1057518671
Maprs1057518671
PheGenIrs1057518671
Biobankrs1057518671
1000 genomesrs1057518671
hgdprs1057518671
ensemblrs1057518671
gopubmedrs1057518671
geneviewrs1057518671
scholarrs1057518671
googlers1057518671
pharmgkbrs1057518671
gwascentralrs1057518671
openSNPrs1057518671
23andMers1057518671
23andMe allrs1057518671
SNPshotrs1057518671
SNPdbers1057518671
MSV3drs1057518671
GWAS Ctlgrs1057518671
Max Magnitude0
ClinVar
Risk rs1057518671(C;C)
Alt rs1057518671(C;C)
Reference Rs1057518671(T;T)
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.166848434A>G
CLNSRC
CLNACC RCV000414903.1,