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rs587777495

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777495(A;A)
Make rs587777495(A;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position45645199
GeneHCN1
is asnp
is mentioned by
dbSNPrs587777495
ebirs587777495
HLIrs587777495
Exacrs587777495
Varsomers587777495
Maprs587777495
PheGenIrs587777495
hapmaprs587777495
1000 genomesrs587777495
hgdprs587777495
ensemblrs587777495
gopubmedrs587777495
geneviewrs587777495
scholarrs587777495
googlers587777495
pharmgkbrs587777495
gwascentralrs587777495
openSNPrs587777495
23andMers587777495
23andMe allrs587777495
SNP Nexus

SNPshotrs587777495
SNPdbers587777495
MSV3drs587777495
GWAS Ctlgrs587777495
Max Magnitude0
ClinVar
Risk rs587777495(A,G;A,G)
Alt rs587777495(A,G;A,G)
Reference rs587777495(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene HCN1
CLNDBN Epileptic encephalopathy, early infantile, 24
Reversed 1
HGVS NC_000005.9:g.45645301G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000128462.2,