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rs1057518667

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518667(A;G)
Make rs1057518667(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position51789402
GeneSCN8A
is asnp
is mentioned by
dbSNPrs1057518667
dbSNP (classic)rs1057518667
ClinGenrs1057518667
ebirs1057518667
HLIrs1057518667
Exacrs1057518667
Gnomadrs1057518667
Varsomers1057518667
LitVarrs1057518667
Maprs1057518667
PheGenIrs1057518667
Biobankrs1057518667
1000 genomesrs1057518667
hgdprs1057518667
ensemblrs1057518667
geneviewrs1057518667
scholarrs1057518667
googlers1057518667
pharmgkbrs1057518667
gwascentralrs1057518667
openSNPrs1057518667
23andMers1057518667
23andMe allrs1057518667
SNPshotrs1057518667
SNPdbers1057518667
MSV3drs1057518667
GWAS Ctlgrs1057518667
Max Magnitude0
ClinVar
Risk rs1057518667(G;G)
Alt rs1057518667(G;G)
Reference Rs1057518667(A;A)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy 13
Variation info
Gene SCN8A
CLNDBN Early infantile epileptic encephalopathy 13
Reversed 0
HGVS NC_000012.11:g.52183186A>G
CLNSRC
CLNACC RCV000415327.1,