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rs1057519526

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519526(C;T)
Make rs1057519526(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165344679
GeneSCN2A
is asnp
is mentioned by
dbSNPrs1057519526
dbSNP (classic)rs1057519526
ClinGenrs1057519526
ebirs1057519526
HLIrs1057519526
Exacrs1057519526
Gnomadrs1057519526
Varsomers1057519526
LitVarrs1057519526
Maprs1057519526
PheGenIrs1057519526
Biobankrs1057519526
1000 genomesrs1057519526
hgdprs1057519526
ensemblrs1057519526
geneviewrs1057519526
scholarrs1057519526
googlers1057519526
pharmgkbrs1057519526
gwascentralrs1057519526
openSNPrs1057519526
23andMers1057519526
23andMe allrs1057519526
SNPshotrs1057519526
SNPdbers1057519526
MSV3drs1057519526
GWAS Ctlgrs1057519526
Max Magnitude0
ClinVar
Risk rs1057519526(T;T)
Alt rs1057519526(T;T)
Reference Rs1057519526(C;C)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SCN2A
CLNDBN Epileptic encephalopathy
Reversed 0
HGVS NC_000002.11:g.166201189C>T
CLNSRC
CLNACC RCV000417026.1,