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rs1057519528

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519528(A;A)
Make rs1057519528(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165310376
GeneSCN2A
is asnp
is mentioned by
dbSNPrs1057519528
dbSNP (old)rs1057519528
ClinGenrs1057519528
ebirs1057519528
HLIrs1057519528
Exacrs1057519528
Gnomadrs1057519528
Varsomers1057519528
Maprs1057519528
PheGenIrs1057519528
Biobankrs1057519528
1000 genomesrs1057519528
hgdprs1057519528
ensemblrs1057519528
gopubmedrs1057519528
geneviewrs1057519528
scholarrs1057519528
googlers1057519528
pharmgkbrs1057519528
gwascentralrs1057519528
openSNPrs1057519528
23andMers1057519528
23andMe allrs1057519528
SNPshotrs1057519528
SNPdbers1057519528
MSV3drs1057519528
GWAS Ctlgrs1057519528
Max Magnitude0
ClinVar
Risk rs1057519528(A;A)
Alt rs1057519528(A;A)
Reference Rs1057519528(G;G)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SCN2A
CLNDBN Epileptic encephalopathy
Reversed 0
HGVS NC_000002.11:g.166166886G>A
CLNSRC
CLNACC RCV000416970.1,