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rs1057518243

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518243(G;T)
Make rs1057518243(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166047763
GeneSCN1A
is asnp
is mentioned by
dbSNPrs1057518243
dbSNP (old)rs1057518243
ClinGenrs1057518243
ebirs1057518243
HLIrs1057518243
Exacrs1057518243
Gnomadrs1057518243
Varsomers1057518243
LitVarrs1057518243
Maprs1057518243
PheGenIrs1057518243
Biobankrs1057518243
1000 genomesrs1057518243
hgdprs1057518243
ensemblrs1057518243
gopubmedrs1057518243
geneviewrs1057518243
scholarrs1057518243
googlers1057518243
pharmgkbrs1057518243
gwascentralrs1057518243
openSNPrs1057518243
23andMers1057518243
23andMe allrs1057518243
SNPshotrs1057518243
SNPdbers1057518243
MSV3drs1057518243
GWAS Ctlgrs1057518243
Max Magnitude0
ClinVar
Risk rs1057518243(T;T)
Alt rs1057518243(T;T)
Reference Rs1057518243(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene SCN1A
CLNDBN not provided
Reversed 1
HGVS NC_000002.11:g.166904273C>A
CLNSRC
CLNACC RCV000413989.1,