rs121917989

Orientation

minus

Stabilized

minus

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

Make rs121917989(A;A)

Make rs121917989(A;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166046882

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917989
dbSNP (classic)	rs121917989
ClinGen	rs121917989
ebi	rs121917989
HLI	rs121917989
Exac	rs121917989
Gnomad	rs121917989
Varsome	rs121917989
LitVar	rs121917989
Map	rs121917989
PheGenI	rs121917989
Biobank	rs121917989
1000 genomes	rs121917989
hgdp	rs121917989
ensembl	rs121917989
geneview	rs121917989
scholar	rs121917989
google	rs121917989
pharmgkb	rs121917989
gwascentral	rs121917989
openSNP	rs121917989
23andMe	rs121917989
SNPshot	rs121917989
SNPdbe	rs121917989
MSV3d	rs121917989
GWAS Ctlg	rs121917989

Max Magnitude

0

ClinVar
Risk	rs121917989(A;A) rs121917989(C;C)
Alt	rs121917989(A;A) rs121917989(C;C)
Reference	Rs121917989(T;T)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy Generalized epilepsy
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy Generalized epilepsy
Reversed	1
HGVS	NC_000002.11:g.166903392A>G; NC_000002.11:g.166903392A>T
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000180872.1, RCV000059382.1,