rs139300715

Orientation

plus

Stabilized

plus

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

Make rs139300715(T;T)

Make rs139300715(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

165996047

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs139300715
dbSNP (classic)	rs139300715
ClinGen	rs139300715
ebi	rs139300715
HLI	rs139300715
Exac	rs139300715
Gnomad	rs139300715
Varsome	rs139300715
LitVar	rs139300715
Map	rs139300715
PheGenI	rs139300715
Biobank	rs139300715
1000 genomes	rs139300715
hgdp	rs139300715
ensembl	rs139300715
geneview	rs139300715
scholar	rs139300715
google	rs139300715
pharmgkb	rs139300715
gwascentral	rs139300715
openSNP	rs139300715
23andMe	rs139300715
SNPshot	rs139300715
SNPdbe	rs139300715
MSV3d	rs139300715
GWAS Ctlg	rs139300715

Max Magnitude

0

ClinVar
Risk	rs139300715(A;A) rs139300715(C;C) rs139300715(T;T)
Alt	rs139300715(A;A) rs139300715(C;C) rs139300715(T;T)
Reference	Rs139300715(G;G)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy not provided
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy not provided
Reversed	0
HGVS	NC_000002.11:g.166852557G>A; NC_000002.11:g.166852557G>C; NC_000002.11:g.166852557G>T
CLNSRC	Peking University
CLNACC	RCV000209885.2, RCV000494091.1, RCV000180875.1, RCV000188961.3, RCV000416525.1,