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rs587777850

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777850(C;T)
Make rs587777850(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position49374425
GeneKCNB1
is asnp
is mentioned by
dbSNPrs587777850
ebirs587777850
HLIrs587777850
Exacrs587777850
Varsomers587777850
Maprs587777850
PheGenIrs587777850
hapmaprs587777850
1000 genomesrs587777850
hgdprs587777850
ensemblrs587777850
gopubmedrs587777850
geneviewrs587777850
scholarrs587777850
googlers587777850
pharmgkbrs587777850
gwascentralrs587777850
openSNPrs587777850
23andMers587777850
23andMe allrs587777850
SNP Nexus

SNPshotrs587777850
SNPdbers587777850
MSV3drs587777850
GWAS Ctlgrs587777850
Max Magnitude0
ClinVar
Risk rs587777850(T;T)
Alt rs587777850(T;T)
Reference rs587777850(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene KCNB1
CLNDBN Epileptic encephalopathy, early infantile, 26
Reversed 0
HGVS NC_000020.10:g.47990962C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144691.2,