rs1057519548

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs1057519548(C;C)

Make rs1057519548(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

45645575

Gene

HCN1

is a	snp
is	mentioned by
dbSNP	rs1057519548
dbSNP (classic)	rs1057519548
ClinGen	rs1057519548
ebi	rs1057519548
HLI	rs1057519548
Exac	rs1057519548
Gnomad	rs1057519548
Varsome	rs1057519548
LitVar	rs1057519548
Map	rs1057519548
PheGenI	rs1057519548
Biobank	rs1057519548
1000 genomes	rs1057519548
hgdp	rs1057519548
ensembl	rs1057519548
geneview	rs1057519548
scholar	rs1057519548
google	rs1057519548
pharmgkb	rs1057519548
gwascentral	rs1057519548
openSNP	rs1057519548
23andMe	rs1057519548
SNPshot	rs1057519548
SNPdbe	rs1057519548
MSV3d	rs1057519548
GWAS Ctlg	rs1057519548

Max Magnitude

0

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,