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rs587777493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777493(A;G)
Make rs587777493(G;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position45645220
GeneHCN1
is asnp
is mentioned by
dbSNPrs587777493
ebirs587777493
HLIrs587777493
Exacrs587777493
Varsomers587777493
Maprs587777493
PheGenIrs587777493
hapmaprs587777493
1000 genomesrs587777493
hgdprs587777493
ensemblrs587777493
gopubmedrs587777493
geneviewrs587777493
scholarrs587777493
googlers587777493
pharmgkbrs587777493
gwascentralrs587777493
openSNPrs587777493
23andMers587777493
23andMe allrs587777493
SNP Nexus

SNPshotrs587777493
SNPdbers587777493
MSV3drs587777493
GWAS Ctlgrs587777493
Max Magnitude0
ClinVar
Risk rs587777493(A,G;A,G)
Alt rs587777493(A,G;A,G)
Reference rs587777493(T;T)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene HCN1
CLNDBN Epileptic encephalopathy, early infantile, 24
Reversed 1
HGVS NC_000005.9:g.45645322A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000128460.2,