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rs761336234

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs761336234(C;T)
Make rs761336234(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position51706668
GeneSCN8A
is asnp
is mentioned by
dbSNPrs761336234
dbSNP (classic)rs761336234
ClinGenrs761336234
ebirs761336234
HLIrs761336234
Exacrs761336234
Gnomadrs761336234
Varsomers761336234
LitVarrs761336234
Maprs761336234
PheGenIrs761336234
Biobankrs761336234
1000 genomesrs761336234
hgdprs761336234
ensemblrs761336234
geneviewrs761336234
scholarrs761336234
googlers761336234
pharmgkbrs761336234
gwascentralrs761336234
openSNPrs761336234
23andMers761336234
23andMe allrs761336234
SNPshotrs761336234
SNPdbers761336234
MSV3drs761336234
GWAS Ctlgrs761336234
Max Magnitude0
ClinVar
Risk rs761336234(T;T)
Alt rs761336234(T;T)
Reference Rs761336234(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.52100452C>T
CLNSRC
CLNACC RCV000239743.1,