rs121917971

Orientation

minus

Stabilized

minus

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

Make rs121917971(A;A)

Make rs121917971(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166037885

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917971
dbSNP (classic)	rs121917971
ClinGen	rs121917971
ebi	rs121917971
HLI	rs121917971
Exac	rs121917971
Gnomad	rs121917971
Varsome	rs121917971
LitVar	rs121917971
Map	rs121917971
PheGenI	rs121917971
Biobank	rs121917971
1000 genomes	rs121917971
hgdp	rs121917971
ensembl	rs121917971
geneview	rs121917971
scholar	rs121917971
google	rs121917971
pharmgkb	rs121917971
gwascentral	rs121917971
openSNP	rs121917971
23andMe	rs121917971
SNPshot	rs121917971
SNPdbe	rs121917971
MSV3d	rs121917971
GWAS Ctlg	rs121917971

Max Magnitude

0

ClinVar
Risk	rs121917971(A;A) rs121917971(C;C)
Alt	rs121917971(A;A) rs121917971(C;C)
Reference	Rs121917971(G;G)
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.166894395C>G; NC_000002.11:g.166894395C>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000180835.1, RCV000059395.2, RCV000378734.1,