rs121917915

Orientation

minus

Stabilized

minus

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

Make rs121917915(G;T)

Make rs121917915(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165994176

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917915
dbSNP (classic)	rs121917915
ClinGen	rs121917915
ebi	rs121917915
HLI	rs121917915
Exac	rs121917915
Gnomad	rs121917915
Varsome	rs121917915
LitVar	rs121917915
Map	rs121917915
PheGenI	rs121917915
Biobank	rs121917915
1000 genomes	rs121917915
hgdp	rs121917915
ensembl	rs121917915
geneview	rs121917915
scholar	rs121917915
google	rs121917915
pharmgkb	rs121917915
gwascentral	rs121917915
openSNP	rs121917915
23andMe	rs121917915
SNPshot	rs121917915
SNPdbe	rs121917915
MSV3d	rs121917915
GWAS Ctlg	rs121917915

Max Magnitude

0

ClinVar
Risk	rs121917915(T;T)
Alt	rs121917915(T;T)
Reference	Rs121917915(G;G)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166850686C>A
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059428.2,