rs121917937

Orientation

minus

Stabilized

minus

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

Make rs121917937(G;G)

Make rs121917937(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166052866

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917937
dbSNP (classic)	rs121917937
ClinGen	rs121917937
ebi	rs121917937
HLI	rs121917937
Exac	rs121917937
Gnomad	rs121917937
Varsome	rs121917937
LitVar	rs121917937
Map	rs121917937
PheGenI	rs121917937
Biobank	rs121917937
1000 genomes	rs121917937
hgdp	rs121917937
ensembl	rs121917937
geneview	rs121917937
scholar	rs121917937
google	rs121917937
pharmgkb	rs121917937
gwascentral	rs121917937
openSNP	rs121917937
23andMe	rs121917937
SNPshot	rs121917937
SNPdbe	rs121917937
MSV3d	rs121917937
GWAS Ctlg	rs121917937

Max Magnitude

0

ClinVar
Risk	rs121917937(G;G)
Alt	rs121917937(G;G)
Reference	Rs121917937(T;T)
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.166909376A>C
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059455.2, RCV000188842.2,