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rs587777721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777721(A;A)
Make rs587777721(A;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position51806336
GeneSCN8A
is asnp
is mentioned by
dbSNPrs587777721
ebirs587777721
HLIrs587777721
Exacrs587777721
Varsomers587777721
Maprs587777721
PheGenIrs587777721
hapmaprs587777721
1000 genomesrs587777721
hgdprs587777721
ensemblrs587777721
gopubmedrs587777721
geneviewrs587777721
scholarrs587777721
googlers587777721
pharmgkbrs587777721
gwascentralrs587777721
openSNPrs587777721
23andMers587777721
23andMe allrs587777721
SNP Nexus

SNPshotrs587777721
SNPdbers587777721
MSV3drs587777721
GWAS Ctlgrs587777721
Max Magnitude0
ClinVar
Risk rs587777721(A;A)
Alt rs587777721(A;A)
Reference rs587777721(G;G)
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.52200120G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000144154.5,