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rs1057519548

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519548(C;C)
Make rs1057519548(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position45645575
GeneHCN1
is asnp
is mentioned by
dbSNPrs1057519548
dbSNP (old)rs1057519548
ClinGenrs1057519548
ebirs1057519548
HLIrs1057519548
Exacrs1057519548
Gnomadrs1057519548
Varsomers1057519548
Maprs1057519548
PheGenIrs1057519548
Biobankrs1057519548
1000 genomesrs1057519548
hgdprs1057519548
ensemblrs1057519548
gopubmedrs1057519548
geneviewrs1057519548
scholarrs1057519548
googlers1057519548
pharmgkbrs1057519548
gwascentralrs1057519548
openSNPrs1057519548
23andMers1057519548
23andMe allrs1057519548
SNPshotrs1057519548
SNPdbers1057519548
MSV3drs1057519548
GWAS Ctlgrs1057519548
Max Magnitude0
ClinVar
Risk rs1057519548(C;C)
Alt rs1057519548(C;C)
Reference Rs1057519548(G;G)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene HCN1
CLNDBN Epileptic encephalopathy
Reversed 1
HGVS NC_000005.9:g.45645677C>G
CLNSRC
CLNACC RCV000417011.1,