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rs587777491

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777491(C;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position45396521
GeneHCN1
is asnp
is mentioned by
dbSNPrs587777491
ebirs587777491
HLIrs587777491
Exacrs587777491
Varsomers587777491
Maprs587777491
PheGenIrs587777491
hapmaprs587777491
1000 genomesrs587777491
hgdprs587777491
ensemblrs587777491
gopubmedrs587777491
geneviewrs587777491
scholarrs587777491
googlers587777491
pharmgkbrs587777491
gwascentralrs587777491
openSNPrs587777491
23andMers587777491
23andMe allrs587777491
SNP Nexus

SNPshotrs587777491
SNPdbers587777491
MSV3drs587777491
GWAS Ctlgrs587777491
Max Magnitude0
ClinVar
Risk rs587777491(C;C)
Alt rs587777491(C;C)
Reference rs587777491(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene HCN1
CLNDBN Epileptic encephalopathy, early infantile, 24
Reversed 1
HGVS NC_000005.9:g.45396623C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000128458.2,