rs121917927

Orientation

minus

Stabilized

minus

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

Make rs121917927(A;A)

Make rs121917927(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166046969

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917927
dbSNP (classic)	rs121917927
ClinGen	rs121917927
ebi	rs121917927
HLI	rs121917927
Exac	rs121917927
Gnomad	rs121917927
Varsome	rs121917927
LitVar	rs121917927
Map	rs121917927
PheGenI	rs121917927
Biobank	rs121917927
1000 genomes	rs121917927
hgdp	rs121917927
ensembl	rs121917927
geneview	rs121917927
scholar	rs121917927
google	rs121917927
pharmgkb	rs121917927
gwascentral	rs121917927
openSNP	rs121917927
23andMe	rs121917927
SNPshot	rs121917927
SNPdbe	rs121917927
MSV3d	rs121917927
GWAS Ctlg	rs121917927

Max Magnitude

0

ClinVar
Risk	rs121917927(A;A)
Alt	rs121917927(A;A)
Reference	Rs121917927(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.166903479C>T
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059378.3, RCV000188863.2,