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rs796053216

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796053216(A;A)
Make rs796053216(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position51790401
GeneSCN8A
is asnp
is mentioned by
dbSNPrs796053216
dbSNP (classic)rs796053216
ClinGenrs796053216
ebirs796053216
HLIrs796053216
Exacrs796053216
Gnomadrs796053216
Varsomers796053216
LitVarrs796053216
Maprs796053216
PheGenIrs796053216
Biobankrs796053216
1000 genomesrs796053216
hgdprs796053216
ensemblrs796053216
geneviewrs796053216
scholarrs796053216
googlers796053216
pharmgkbrs796053216
gwascentralrs796053216
openSNPrs796053216
23andMers796053216
SNPshotrs796053216
SNPdbers796053216
MSV3drs796053216
GWAS Ctlgrs796053216
Max Magnitude0
ClinVar
Risk rs796053216(A;A)
Alt rs796053216(A;A)
Reference Rs796053216(G;G)
Significance Pathogenic
Disease not provided Epileptic encephalopathy Early infantile epileptic encephalopathy
Variation info
Gene SCN8A
CLNDBN not provided Epileptic encephalopathy Early infantile epileptic encephalopathy
Reversed 0
HGVS NC_000012.11:g.52184185G>A
CLNSRC
CLNACC RCV000189277.2, RCV000416962.1, RCV000462091.1,