rs121917964

Orientation

minus

Stabilized

minus

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

Make rs121917964(A;G)

Make rs121917964(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

166073371

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917964
dbSNP (classic)	rs121917964
ClinGen	rs121917964
ebi	rs121917964
HLI	rs121917964
Exac	rs121917964
Gnomad	rs121917964
Varsome	rs121917964
LitVar	rs121917964
Map	rs121917964
PheGenI	rs121917964
Biobank	rs121917964
1000 genomes	rs121917964
hgdp	rs121917964
ensembl	rs121917964
geneview	rs121917964
scholar	rs121917964
google	rs121917964
pharmgkb	rs121917964
gwascentral	rs121917964
openSNP	rs121917964
23andMe	rs121917964
SNPshot	rs121917964
SNPdbe	rs121917964
MSV3d	rs121917964
GWAS Ctlg	rs121917964

Max Magnitude

0

ClinVar
Risk	rs121917964(G;G)
Alt	rs121917964(G;G)
Reference	Rs121917964(A;A)
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.166929881T>C
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059392.1, RCV000255485.1,