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rs797045013

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045013(C;T)
Make rs797045013(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position51751523
GeneSCN8A
is asnp
is mentioned by
dbSNPrs797045013
ebirs797045013
HLIrs797045013
Exacrs797045013
Varsomers797045013
Maprs797045013
PheGenIrs797045013
hapmaprs797045013
1000 genomesrs797045013
hgdprs797045013
ensemblrs797045013
gopubmedrs797045013
geneviewrs797045013
scholarrs797045013
googlers797045013
pharmgkbrs797045013
gwascentralrs797045013
openSNPrs797045013
23andMers797045013
23andMe allrs797045013
SNP Nexus

SNPshotrs797045013
SNPdbers797045013
MSV3drs797045013
GWAS Ctlgrs797045013
Max Magnitude0
ClinVar
Risk rs797045013(T;T)
Alt rs797045013(T;T)
Reference rs797045013(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 13
Variation info
Gene SCN8A
CLNDBN Early infantile epileptic encephalopathy 13
Reversed 0
HGVS NC_000012.11:g.52145307C>T
CLNSRC
CLNACC RCV000190513.1,