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rs1057519531

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519531(A;G)
Make rs1057519531(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166052945
GeneSCN1A
is asnp
is mentioned by
dbSNPrs1057519531
dbSNP (old)rs1057519531
ClinGenrs1057519531
ebirs1057519531
HLIrs1057519531
Exacrs1057519531
Gnomadrs1057519531
Varsomers1057519531
Maprs1057519531
PheGenIrs1057519531
Biobankrs1057519531
1000 genomesrs1057519531
hgdprs1057519531
ensemblrs1057519531
gopubmedrs1057519531
geneviewrs1057519531
scholarrs1057519531
googlers1057519531
pharmgkbrs1057519531
gwascentralrs1057519531
openSNPrs1057519531
23andMers1057519531
23andMe allrs1057519531
SNPshotrs1057519531
SNPdbers1057519531
MSV3drs1057519531
GWAS Ctlgrs1057519531
Max Magnitude0
ClinVar
Risk rs1057519531(G;G)
Alt rs1057519531(G;G)
Reference Rs1057519531(A;A)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166909455T>C
CLNSRC
CLNACC RCV000417006.1,