rs760361423

Orientation

plus

Stabilized

plus

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

Make rs760361423(C;T)

Make rs760361423(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166058645

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs760361423
dbSNP (classic)	rs760361423
ClinGen	rs760361423
ebi	rs760361423
HLI	rs760361423
Exac	rs760361423
Gnomad	rs760361423
Varsome	rs760361423
LitVar	rs760361423
Map	rs760361423
PheGenI	rs760361423
Biobank	rs760361423
1000 genomes	rs760361423
hgdp	rs760361423
ensembl	rs760361423
geneview	rs760361423
scholar	rs760361423
google	rs760361423
pharmgkb	rs760361423
gwascentral	rs760361423
openSNP	rs760361423
23andMe	rs760361423
SNPshot	rs760361423
SNPdbe	rs760361423
MSV3d	rs760361423
GWAS Ctlg	rs760361423

Max Magnitude

0

ClinVar
Risk	rs760361423(A;A) rs760361423(T;T)
Alt	rs760361423(A;A) rs760361423(T;T)
Reference	Rs760361423(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	0
HGVS	NC_000002.11:g.166915155C>A
CLNSRC	Peking University
CLNACC	RCV000180851.1,