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rs796053228

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796053228(C;T)
Make rs796053228(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position51807100
GeneSCN8A
is asnp
is mentioned by
dbSNPrs796053228
ebirs796053228
HLIrs796053228
Exacrs796053228
Varsomers796053228
Maprs796053228
PheGenIrs796053228
hapmaprs796053228
1000 genomesrs796053228
hgdprs796053228
ensemblrs796053228
gopubmedrs796053228
geneviewrs796053228
scholarrs796053228
googlers796053228
pharmgkbrs796053228
gwascentralrs796053228
openSNPrs796053228
23andMers796053228
23andMe allrs796053228
SNP Nexus

SNPshotrs796053228
SNPdbers796053228
MSV3drs796053228
GWAS Ctlgrs796053228
Max Magnitude0
ClinVar
Risk rs796053228(T;T)
Alt rs796053228(T;T)
Reference rs796053228(C;C)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy
Variation info
Gene SCN8A
CLNDBN not provided Early infantile epileptic encephalopathy
Reversed 0
HGVS NC_000012.11:g.52200884C>T
CLNSRC
CLNACC RCV000189289.1, RCV000229600.1,