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rs1057519547

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519547(A;A)
Make rs1057519547(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position45396550
GeneHCN1
is asnp
is mentioned by
dbSNPrs1057519547
dbSNP (old)rs1057519547
ClinGenrs1057519547
ebirs1057519547
HLIrs1057519547
Exacrs1057519547
Gnomadrs1057519547
Varsomers1057519547
Maprs1057519547
PheGenIrs1057519547
Biobankrs1057519547
1000 genomesrs1057519547
hgdprs1057519547
ensemblrs1057519547
gopubmedrs1057519547
geneviewrs1057519547
scholarrs1057519547
googlers1057519547
pharmgkbrs1057519547
gwascentralrs1057519547
openSNPrs1057519547
23andMers1057519547
23andMe allrs1057519547
SNPshotrs1057519547
SNPdbers1057519547
MSV3drs1057519547
GWAS Ctlgrs1057519547
Max Magnitude0
ClinVar
Risk rs1057519547(A;A)
Alt rs1057519547(A;A)
Reference Rs1057519547(G;G)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene HCN1
CLNDBN Epileptic encephalopathy
Reversed 1
HGVS NC_000005.9:g.45396652C>T
CLNSRC
CLNACC RCV000416966.1,