rs121917951

Orientation

minus

Stabilized

minus

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

Make rs121917951(C;T)

Make rs121917951(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

165991957

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917951
dbSNP (classic)	rs121917951
ClinGen	rs121917951
ebi	rs121917951
HLI	rs121917951
Exac	rs121917951
Gnomad	rs121917951
Varsome	rs121917951
LitVar	rs121917951
Map	rs121917951
PheGenI	rs121917951
Biobank	rs121917951
1000 genomes	rs121917951
hgdp	rs121917951
ensembl	rs121917951
geneview	rs121917951
scholar	rs121917951
google	rs121917951
pharmgkb	rs121917951
gwascentral	rs121917951
openSNP	rs121917951
23andMe	rs121917951
SNPshot	rs121917951
SNPdbe	rs121917951
MSV3d	rs121917951
GWAS Ctlg	rs121917951

Max Magnitude

0

ClinVar
Risk	rs121917951(A;A) rs121917951(T;T)
Alt	rs121917951(A;A) rs121917951(T;T)
Reference	Rs121917951(C;C)
Significance	Probable-Pathogenic
Disease	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy
Reversed	1
HGVS	NC_000002.11:g.166848467G>A; NC_000002.11:g.166848467G>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059443.1, RCV000471658.1,