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rs587777492

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777492(A;A)
Make rs587777492(A;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position45695795
GeneHCN1
is asnp
is mentioned by
dbSNPrs587777492
ebirs587777492
HLIrs587777492
Exacrs587777492
Varsomers587777492
Maprs587777492
PheGenIrs587777492
hapmaprs587777492
1000 genomesrs587777492
hgdprs587777492
ensemblrs587777492
gopubmedrs587777492
geneviewrs587777492
scholarrs587777492
googlers587777492
pharmgkbrs587777492
gwascentralrs587777492
openSNPrs587777492
23andMers587777492
23andMe allrs587777492
SNP Nexus

SNPshotrs587777492
SNPdbers587777492
MSV3drs587777492
GWAS Ctlgrs587777492
Max Magnitude0
ClinVar
Risk rs587777492(A,G;A,G)
Alt rs587777492(A,G;A,G)
Reference rs587777492(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene HCN1
CLNDBN Epileptic encephalopathy, early infantile, 24
Reversed 1
HGVS NC_000005.9:g.45695897G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000128459.2,