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rs587777722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777722(A;A)
Make rs587777722(A;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position51789397
GeneSCN8A
is asnp
is mentioned by
dbSNPrs587777722
ebirs587777722
HLIrs587777722
Exacrs587777722
Varsomers587777722
Maprs587777722
PheGenIrs587777722
hapmaprs587777722
1000 genomesrs587777722
hgdprs587777722
ensemblrs587777722
gopubmedrs587777722
geneviewrs587777722
scholarrs587777722
googlers587777722
pharmgkbrs587777722
gwascentralrs587777722
openSNPrs587777722
23andMers587777722
23andMe allrs587777722
SNP Nexus

SNPshotrs587777722
SNPdbers587777722
MSV3drs587777722
GWAS Ctlgrs587777722
Max Magnitude0
ClinVar
Risk rs587777722(A;A)
Alt rs587777722(A;A)
Reference rs587777722(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.52183181C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000144155.4,