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rs587780454

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587780454(C;C)
Make rs587780454(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position51794620
GeneSCN8A
is asnp
is mentioned by
dbSNPrs587780454
ebirs587780454
HLIrs587780454
Exacrs587780454
Varsomers587780454
Maprs587780454
PheGenIrs587780454
hapmaprs587780454
1000 genomesrs587780454
hgdprs587780454
ensemblrs587780454
gopubmedrs587780454
geneviewrs587780454
scholarrs587780454
googlers587780454
pharmgkbrs587780454
gwascentralrs587780454
openSNPrs587780454
23andMers587780454
23andMe allrs587780454
SNP Nexus

SNPshotrs587780454
SNPdbers587780454
MSV3drs587780454
GWAS Ctlgrs587780454
Max Magnitude0
ClinVar
Risk rs587780454(C;C)
Alt rs587780454(C;C)
Reference rs587780454(G;G)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy 13
Variation info
Gene SCN8A
CLNDBN Early infantile epileptic encephalopathy 13
Reversed 0
HGVS NC_000012.11:g.52188404G>C
CLNSRC
CLNACC RCV000118285.1,