rs121917990

Orientation

minus

Stabilized

minus

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

Make rs121917990(A;G)

Make rs121917990(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166043836

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917990
dbSNP (classic)	rs121917990
ClinGen	rs121917990
ebi	rs121917990
HLI	rs121917990
Exac	rs121917990
Gnomad	rs121917990
Varsome	rs121917990
LitVar	rs121917990
Map	rs121917990
PheGenI	rs121917990
Biobank	rs121917990
1000 genomes	rs121917990
hgdp	rs121917990
ensembl	rs121917990
geneview	rs121917990
scholar	rs121917990
google	rs121917990
pharmgkb	rs121917990
gwascentral	rs121917990
openSNP	rs121917990
23andMe	rs121917990
SNPshot	rs121917990
SNPdbe	rs121917990
MSV3d	rs121917990
GWAS Ctlg	rs121917990

Max Magnitude

0

ClinVar
Risk	rs121917990(G;G)
Alt	rs121917990(G;G)
Reference	Rs121917990(A;A)
Significance	Pathogenic
Disease	Generalized epilepsy Severe myoclonic epilepsy in infancy
Variation	info
Gene	SCN1A
CLNDBN	Generalized epilepsy Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166900346T>C
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059384.1, RCV000180909.1,