rs121917984

Orientation

minus

Stabilized

minus

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

Make rs121917984(C;T)

Make rs121917984(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166052869

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917984
dbSNP (classic)	rs121917984
ClinGen	rs121917984
ebi	rs121917984
HLI	rs121917984
Exac	rs121917984
Gnomad	rs121917984
Varsome	rs121917984
LitVar	rs121917984
Map	rs121917984
PheGenI	rs121917984
Biobank	rs121917984
1000 genomes	rs121917984
hgdp	rs121917984
ensembl	rs121917984
geneview	rs121917984
scholar	rs121917984
google	rs121917984
pharmgkb	rs121917984
gwascentral	rs121917984
openSNP	rs121917984
23andMe	rs121917984
SNPshot	rs121917984
SNPdbe	rs121917984
MSV3d	rs121917984
GWAS Ctlg	rs121917984

Max Magnitude

0

ClinVar
Risk	rs121917984(G;G) rs121917984(T;T)
Alt	rs121917984(G;G) rs121917984(T;T)
Reference	Rs121917984(C;C)
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.166909379G>A; NC_000002.11:g.166909379G>C
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059454.1, RCV000188843.2, RCV000189074.1,