rs121917914

Orientation

minus

Stabilized

minus

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

Make rs121917914(A;A)

Make rs121917914(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165992387

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917914
dbSNP (classic)	rs121917914
ClinGen	rs121917914
ebi	rs121917914
HLI	rs121917914
Exac	rs121917914
Gnomad	rs121917914
Varsome	rs121917914
LitVar	rs121917914
Map	rs121917914
PheGenI	rs121917914
Biobank	rs121917914
1000 genomes	rs121917914
hgdp	rs121917914
ensembl	rs121917914
geneview	rs121917914
scholar	rs121917914
google	rs121917914
pharmgkb	rs121917914
gwascentral	rs121917914
openSNP	rs121917914
23andMe	rs121917914
SNPshot	rs121917914
SNPdbe	rs121917914
MSV3d	rs121917914
GWAS Ctlg	rs121917914

Max Magnitude

0

ClinVar
Risk	rs121917914(A;A)
Alt	rs121917914(A;A)
Reference	Rs121917914(G;G)
Significance	Untested
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166848897C>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059430.1,