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rs1057519523

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519523(A;G)
Make rs1057519523(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165373342
GeneSCN2A
is asnp
is mentioned by
dbSNPrs1057519523
dbSNP (old)rs1057519523
ClinGenrs1057519523
ebirs1057519523
HLIrs1057519523
Exacrs1057519523
Gnomadrs1057519523
Varsomers1057519523
Maprs1057519523
PheGenIrs1057519523
Biobankrs1057519523
1000 genomesrs1057519523
hgdprs1057519523
ensemblrs1057519523
gopubmedrs1057519523
geneviewrs1057519523
scholarrs1057519523
googlers1057519523
pharmgkbrs1057519523
gwascentralrs1057519523
openSNPrs1057519523
23andMers1057519523
23andMe allrs1057519523
SNPshotrs1057519523
SNPdbers1057519523
MSV3drs1057519523
GWAS Ctlgrs1057519523
Max Magnitude0
ClinVar
Risk rs1057519523(G;G)
Alt rs1057519523(G;G)
Reference Rs1057519523(A;A)
Significance Pathogenic
Disease Malignant migrating partial seizures of infancy
Variation info
Gene SCN2A
CLNDBN Malignant migrating partial seizures of infancy
Reversed 0
HGVS NC_000002.11:g.166229852A>G
CLNSRC
CLNACC RCV000416998.1,