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rs587777723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777723(A;C)
Make rs587777723(C;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position51789396
GeneSCN8A
is asnp
is mentioned by
dbSNPrs587777723
ebirs587777723
HLIrs587777723
Exacrs587777723
Varsomers587777723
Maprs587777723
PheGenIrs587777723
hapmaprs587777723
1000 genomesrs587777723
hgdprs587777723
ensemblrs587777723
gopubmedrs587777723
geneviewrs587777723
scholarrs587777723
googlers587777723
pharmgkbrs587777723
gwascentralrs587777723
openSNPrs587777723
23andMers587777723
23andMe allrs587777723
SNP Nexus

SNPshotrs587777723
SNPdbers587777723
MSV3drs587777723
GWAS Ctlgrs587777723
Max Magnitude0
ClinVar
Risk rs587777723(C;C)
Alt rs587777723(C;C)
Reference rs587777723(A;A)
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.52183180A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000144156.4,