rs121918788

Orientation

minus

Stabilized

minus

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

Make rs121918788(C;T)

Make rs121918788(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166037931

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918788
dbSNP (classic)	rs121918788
ClinGen	rs121918788
ebi	rs121918788
HLI	rs121918788
Exac	rs121918788
Gnomad	rs121918788
Varsome	rs121918788
LitVar	rs121918788
Map	rs121918788
PheGenI	rs121918788
Biobank	rs121918788
1000 genomes	rs121918788
hgdp	rs121918788
ensembl	rs121918788
geneview	rs121918788
scholar	rs121918788
google	rs121918788
pharmgkb	rs121918788
gwascentral	rs121918788
openSNP	rs121918788
23andMe	rs121918788
SNPshot	rs121918788
SNPdbe	rs121918788
MSV3d	rs121918788
GWAS Ctlg	rs121918788

Max Magnitude

0

ClinVar
Risk	rs121918788(T;T)
Alt	rs121918788(T;T)
Reference	Rs121918788(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus not provided
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 not provided
Reversed	1
HGVS	NC_000002.11:g.166894441G>A
CLNSRC	HGMD UniProtKB (variants)
CLNACC	RCV000059475.4, RCV000153894.3, RCV000188897.3,