rs1057519547

Orientation

minus

Stabilized

minus

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

Make rs1057519547(A;A)

Make rs1057519547(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

45396550

Gene

HCN1

is a	snp
is	mentioned by
dbSNP	rs1057519547
dbSNP (classic)	rs1057519547
ClinGen	rs1057519547
ebi	rs1057519547
HLI	rs1057519547
Exac	rs1057519547
Gnomad	rs1057519547
Varsome	rs1057519547
LitVar	rs1057519547
Map	rs1057519547
PheGenI	rs1057519547
Biobank	rs1057519547
1000 genomes	rs1057519547
hgdp	rs1057519547
ensembl	rs1057519547
geneview	rs1057519547
scholar	rs1057519547
google	rs1057519547
pharmgkb	rs1057519547
gwascentral	rs1057519547
openSNP	rs1057519547
23andMe	rs1057519547
SNPshot	rs1057519547
SNPdbe	rs1057519547
MSV3d	rs1057519547
GWAS Ctlg	rs1057519547

Max Magnitude

0

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,