rs121917983

Orientation

minus

Stabilized

minus

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

Make rs121917983(C;G)

Make rs121917983(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

166054644

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917983
dbSNP (classic)	rs121917983
ClinGen	rs121917983
ebi	rs121917983
HLI	rs121917983
Exac	rs121917983
Gnomad	rs121917983
Varsome	rs121917983
LitVar	rs121917983
Map	rs121917983
PheGenI	rs121917983
Biobank	rs121917983
1000 genomes	rs121917983
hgdp	rs121917983
ensembl	rs121917983
geneview	rs121917983
scholar	rs121917983
google	rs121917983
pharmgkb	rs121917983
gwascentral	rs121917983
openSNP	rs121917983
23andMe	rs121917983
SNPshot	rs121917983
SNPdbe	rs121917983
MSV3d	rs121917983
GWAS Ctlg	rs121917983

Max Magnitude

0

ClinVar
Risk	rs121917983(G;G)
Alt	rs121917983(G;G)
Reference	Rs121917983(C;C)
Significance	Probable-Pathogenic
Disease	not provided Severe myoclonic epilepsy in infancy
Variation	info
Gene	SCN1A
CLNDBN	not provided Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166911154G>A; NC_000002.11:g.166911154G>C
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000494282.1, RCV000059452.1,