rs121917908

Orientation

minus

Stabilized

minus

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

Make rs121917908(A;A)

Make rs121917908(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165999764

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917908
dbSNP (classic)	rs121917908
ClinGen	rs121917908
ebi	rs121917908
HLI	rs121917908
Exac	rs121917908
Gnomad	rs121917908
Varsome	rs121917908
LitVar	rs121917908
Map	rs121917908
PheGenI	rs121917908
Biobank	rs121917908
1000 genomes	rs121917908
hgdp	rs121917908
ensembl	rs121917908
geneview	rs121917908
scholar	rs121917908
google	rs121917908
pharmgkb	rs121917908
gwascentral	rs121917908
openSNP	rs121917908
23andMe	rs121917908
SNPshot	rs121917908
SNPdbe	rs121917908
MSV3d	rs121917908
GWAS Ctlg	rs121917908

Max Magnitude

0

ClinVar
Risk	rs121917908(A;A) rs121917908(C;C)
Alt	rs121917908(A;A) rs121917908(C;C)
Reference	Rs121917908(G;G)
Significance	Pathogenic
Disease	not provided Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	not provided Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166856274C>G; NC_000002.11:g.166856274C>T
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000188935.1, RCV000059416.1,