rs121917912

Orientation

minus

Stabilized

minus

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

Make rs121917912(A;A)

Make rs121917912(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166012254

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917912
dbSNP (classic)	rs121917912
ClinGen	rs121917912
ebi	rs121917912
HLI	rs121917912
Exac	rs121917912
Gnomad	rs121917912
Varsome	rs121917912
LitVar	rs121917912
Map	rs121917912
PheGenI	rs121917912
Biobank	rs121917912
1000 genomes	rs121917912
hgdp	rs121917912
ensembl	rs121917912
geneview	rs121917912
scholar	rs121917912
google	rs121917912
pharmgkb	rs121917912
gwascentral	rs121917912
openSNP	rs121917912
23andMe	rs121917912
SNPshot	rs121917912
SNPdbe	rs121917912
MSV3d	rs121917912
GWAS Ctlg	rs121917912

Max Magnitude

0

ClinVar
Risk	rs121917912(A;A)
Alt	rs121917912(A;A)
Reference	Rs121917912(G;G)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy not provided
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy not provided
Reversed	1
HGVS	NC_000002.11:g.166868764C>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059406.1, RCV000188926.1,