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rs1057519524

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519524(C;C)
Make rs1057519524(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165386837
GeneSCN2A
is asnp
is mentioned by
dbSNPrs1057519524
dbSNP (old)rs1057519524
ClinGenrs1057519524
ebirs1057519524
HLIrs1057519524
Exacrs1057519524
Gnomadrs1057519524
Varsomers1057519524
LitVarrs1057519524
Maprs1057519524
PheGenIrs1057519524
Biobankrs1057519524
1000 genomesrs1057519524
hgdprs1057519524
ensemblrs1057519524
gopubmedrs1057519524
geneviewrs1057519524
scholarrs1057519524
googlers1057519524
pharmgkbrs1057519524
gwascentralrs1057519524
openSNPrs1057519524
23andMers1057519524
23andMe allrs1057519524
SNPshotrs1057519524
SNPdbers1057519524
MSV3drs1057519524
GWAS Ctlgrs1057519524
Max Magnitude0
ClinVar
Risk rs1057519524(C;C)
Alt rs1057519524(C;C)
Reference Rs1057519524(T;T)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SCN2A
CLNDBN Epileptic encephalopathy
Reversed 0
HGVS NC_000002.11:g.166243347T>C
CLNSRC
CLNACC RCV000417035.1,