rs121917959

Orientation

minus

Stabilized

minus

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

Make rs121917959(C;C)

Make rs121917959(C;G)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

166058599

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917959
dbSNP (classic)	rs121917959
ClinGen	rs121917959
ebi	rs121917959
HLI	rs121917959
Exac	rs121917959
Gnomad	rs121917959
Varsome	rs121917959
LitVar	rs121917959
Map	rs121917959
PheGenI	rs121917959
Biobank	rs121917959
1000 genomes	rs121917959
hgdp	rs121917959
ensembl	rs121917959
geneview	rs121917959
scholar	rs121917959
google	rs121917959
pharmgkb	rs121917959
gwascentral	rs121917959
openSNP	rs121917959
23andMe	rs121917959
SNPshot	rs121917959
SNPdbe	rs121917959
MSV3d	rs121917959
GWAS Ctlg	rs121917959

Max Magnitude

0

ClinVar
Risk	rs121917959(A;A) rs121917959(C;C) rs121917959(T;T)
Alt	rs121917959(A;A) rs121917959(C;C) rs121917959(T;T)
Reference	Rs121917959(G;G)
Significance	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.166915109C>A; NC_000002.11:g.166915109C>G
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000364532.1, RCV000059401.1,