rs121917957

Orientation

minus

Stabilized

minus

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

Make rs121917957(A;A)

Make rs121917957(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166047667

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917957
dbSNP (classic)	rs121917957
ClinGen	rs121917957
ebi	rs121917957
HLI	rs121917957
Exac	rs121917957
Gnomad	rs121917957
Varsome	rs121917957
LitVar	rs121917957
Map	rs121917957
PheGenI	rs121917957
Biobank	rs121917957
1000 genomes	rs121917957
hgdp	rs121917957
ensembl	rs121917957
geneview	rs121917957
scholar	rs121917957
google	rs121917957
pharmgkb	rs121917957
gwascentral	rs121917957
openSNP	rs121917957
23andMe	rs121917957
SNPshot	rs121917957
SNPdbe	rs121917957
MSV3d	rs121917957
GWAS Ctlg	rs121917957

Max Magnitude

0

ClinVar
Risk	rs121917957(A;A)
Alt	rs121917957(A;A)
Reference	Rs121917957(G;G)
Significance	Pathogenic
Disease	Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy not provided
Variation	info
Gene	SCN1A
CLNDBN	Generalized epilepsy with febrile seizures plus, type 1 Severe myoclonic epilepsy in infancy not provided
Reversed	1
HGVS	NC_000002.11:g.166904177C>T
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059374.1, RCV000180936.1, RCV000188861.3,