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rs587777494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777494(C;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position45461967
GeneHCN1
is asnp
is mentioned by
dbSNPrs587777494
ebirs587777494
HLIrs587777494
Exacrs587777494
Varsomers587777494
Maprs587777494
PheGenIrs587777494
hapmaprs587777494
1000 genomesrs587777494
hgdprs587777494
ensemblrs587777494
gopubmedrs587777494
geneviewrs587777494
scholarrs587777494
googlers587777494
pharmgkbrs587777494
gwascentralrs587777494
openSNPrs587777494
23andMers587777494
23andMe allrs587777494
SNP Nexus

SNPshotrs587777494
SNPdbers587777494
MSV3drs587777494
GWAS Ctlgrs587777494
Max Magnitude0
ClinVar
Risk rs587777494(C;C)
Alt rs587777494(C;C)
Reference rs587777494(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene HCN1
CLNDBN Epileptic encephalopathy, early infantile, 24
Reversed 1
HGVS NC_000005.9:g.45462069C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000128461.2,