rs121917972

Orientation

minus

Stabilized

minus

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

Make rs121917972(A;A)

Make rs121917972(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

166037873

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917972
dbSNP (classic)	rs121917972
ClinGen	rs121917972
ebi	rs121917972
HLI	rs121917972
Exac	rs121917972
Gnomad	rs121917972
Varsome	rs121917972
LitVar	rs121917972
Map	rs121917972
PheGenI	rs121917972
Biobank	rs121917972
1000 genomes	rs121917972
hgdp	rs121917972
ensembl	rs121917972
geneview	rs121917972
scholar	rs121917972
google	rs121917972
pharmgkb	rs121917972
gwascentral	rs121917972
openSNP	rs121917972
23andMe	rs121917972
SNPshot	rs121917972
SNPdbe	rs121917972
MSV3d	rs121917972
GWAS Ctlg	rs121917972

Max Magnitude

0

ClinVar
Risk	rs121917972(A;A)
Alt	rs121917972(A;A)
Reference	Rs121917972(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.166894383C>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059396.1, RCV000429753.1,