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rs758253791

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs758253791(C;T)
Make rs758253791(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position51745907
GeneSCN8A
is asnp
is mentioned by
dbSNPrs758253791
dbSNP (classic)rs758253791
ClinGenrs758253791
ebirs758253791
HLIrs758253791
Exacrs758253791
Gnomadrs758253791
Varsomers758253791
LitVarrs758253791
Maprs758253791
PheGenIrs758253791
Biobankrs758253791
1000 genomesrs758253791
hgdprs758253791
ensemblrs758253791
geneviewrs758253791
scholarrs758253791
googlers758253791
pharmgkbrs758253791
gwascentralrs758253791
openSNPrs758253791
23andMers758253791
23andMe allrs758253791
SNPshotrs758253791
SNPdbers758253791
MSV3drs758253791
GWAS Ctlgrs758253791
Max Magnitude0
ClinVar
Risk rs758253791(T;T)
Alt rs758253791(T;T)
Reference Rs758253791(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.52139691C>T
CLNSRC
CLNACC RCV000239754.1,