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rs587777848

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777848(G;T)
Make rs587777848(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position49374519
GeneKCNB1
is asnp
is mentioned by
dbSNPrs587777848
ebirs587777848
HLIrs587777848
Exacrs587777848
Varsomers587777848
Maprs587777848
PheGenIrs587777848
hapmaprs587777848
1000 genomesrs587777848
hgdprs587777848
ensemblrs587777848
gopubmedrs587777848
geneviewrs587777848
scholarrs587777848
googlers587777848
pharmgkbrs587777848
gwascentralrs587777848
openSNPrs587777848
23andMers587777848
23andMe allrs587777848
SNP Nexus

SNPshotrs587777848
SNPdbers587777848
MSV3drs587777848
GWAS Ctlgrs587777848
Max Magnitude0
ClinVar
Risk rs587777848(T;T)
Alt rs587777848(T;T)
Reference rs587777848(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene KCNB1
CLNDBN Epileptic encephalopathy, early infantile, 26
Reversed 0
HGVS NC_000020.10:g.47991056G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144689.3,