rs121917986

Orientation

minus

Stabilized

minus

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

Make rs121917986(A;A)

Make rs121917986(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166002588

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917986
dbSNP (classic)	rs121917986
ClinGen	rs121917986
ebi	rs121917986
HLI	rs121917986
Exac	rs121917986
Gnomad	rs121917986
Varsome	rs121917986
LitVar	rs121917986
Map	rs121917986
PheGenI	rs121917986
Biobank	rs121917986
1000 genomes	rs121917986
hgdp	rs121917986
ensembl	rs121917986
geneview	rs121917986
scholar	rs121917986
google	rs121917986
pharmgkb	rs121917986
gwascentral	rs121917986
openSNP	rs121917986
23andMe	rs121917986
SNPshot	rs121917986
SNPdbe	rs121917986
MSV3d	rs121917986
GWAS Ctlg	rs121917986

Max Magnitude

0

ClinVar
Risk	rs121917986(A;A) rs121917986(C;C)
Alt	rs121917986(A;A) rs121917986(C;C)
Reference	Rs121917986(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.166859098C>G; NC_000002.11:g.166859098C>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000180970.1, RCV000059411.2, RCV000254970.1,