rs121917982

Orientation

minus

Stabilized

minus

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

Make rs121917982(C;C)

Make rs121917982(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

166073387

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917982
dbSNP (classic)	rs121917982
ClinGen	rs121917982
ebi	rs121917982
HLI	rs121917982
Exac	rs121917982
Gnomad	rs121917982
Varsome	rs121917982
LitVar	rs121917982
Map	rs121917982
PheGenI	rs121917982
Biobank	rs121917982
1000 genomes	rs121917982
hgdp	rs121917982
ensembl	rs121917982
geneview	rs121917982
scholar	rs121917982
google	rs121917982
pharmgkb	rs121917982
gwascentral	rs121917982
openSNP	rs121917982
23andMe	rs121917982
SNPshot	rs121917982
SNPdbe	rs121917982
MSV3d	rs121917982
GWAS Ctlg	rs121917982

Max Magnitude

0

ClinVar
Risk	rs121917982(A;A) rs121917982(C;C)
Alt	rs121917982(A;A) rs121917982(C;C)
Reference	Rs121917982(G;G)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy not provided
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy not provided
Reversed	1
HGVS	NC_000002.11:g.166929897C>G; NC_000002.11:g.166929897C>T
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059389.1, RCV000419539.1,