rs121917929

Orientation

minus

Stabilized

minus

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

Make rs121917929(C;T)

Make rs121917929(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166046970

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917929
dbSNP (classic)	rs121917929
ClinGen	rs121917929
ebi	rs121917929
HLI	rs121917929
Exac	rs121917929
Gnomad	rs121917929
Varsome	rs121917929
LitVar	rs121917929
Map	rs121917929
PheGenI	rs121917929
Biobank	rs121917929
1000 genomes	rs121917929
hgdp	rs121917929
ensembl	rs121917929
geneview	rs121917929
scholar	rs121917929
google	rs121917929
pharmgkb	rs121917929
gwascentral	rs121917929
openSNP	rs121917929
23andMe	rs121917929
SNPshot	rs121917929
SNPdbe	rs121917929
MSV3d	rs121917929
GWAS Ctlg	rs121917929

Max Magnitude

0

ClinVar
Risk	rs121917929(A;A) rs121917929(T;T)
Alt	rs121917929(A;A) rs121917929(T;T)
Reference	Rs121917929(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy not provided Generalized epilepsy with febrile seizures plus
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy not provided Generalized epilepsy with febrile seizures plus, type 2
Reversed	1
HGVS	NC_000002.11:g.166903480G>A; NC_000002.11:g.166903480G>T
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059377.2, RCV000188854.2, RCV000391049.1, RCV000059376.1,