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rs1057519540

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519540(A;G)
Make rs1057519540(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position51768895
GeneSCN8A
is asnp
is mentioned by
dbSNPrs1057519540
dbSNP (old)rs1057519540
ClinGenrs1057519540
ebirs1057519540
HLIrs1057519540
Exacrs1057519540
Gnomadrs1057519540
Varsomers1057519540
LitVarrs1057519540
Maprs1057519540
PheGenIrs1057519540
Biobankrs1057519540
1000 genomesrs1057519540
hgdprs1057519540
ensemblrs1057519540
gopubmedrs1057519540
geneviewrs1057519540
scholarrs1057519540
googlers1057519540
pharmgkbrs1057519540
gwascentralrs1057519540
openSNPrs1057519540
23andMers1057519540
23andMe allrs1057519540
SNPshotrs1057519540
SNPdbers1057519540
MSV3drs1057519540
GWAS Ctlgrs1057519540
Max Magnitude0
ClinVar
Risk rs1057519540(G;G)
Alt rs1057519540(G;G)
Reference Rs1057519540(A;A)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SCN8A
CLNDBN Epileptic encephalopathy
Reversed 0
HGVS NC_000012.11:g.52162679A>G
CLNSRC
CLNACC RCV000417010.1,