rs727504142

Orientation

minus

Stabilized

minus

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

Make rs727504142(C;C)

Make rs727504142(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166052847

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs727504142
dbSNP (classic)	rs727504142
ClinGen	rs727504142
ebi	rs727504142
HLI	rs727504142
Exac	rs727504142
Gnomad	rs727504142
Varsome	rs727504142
LitVar	rs727504142
Map	rs727504142
PheGenI	rs727504142
Biobank	rs727504142
1000 genomes	rs727504142
hgdp	rs727504142
ensembl	rs727504142
geneview	rs727504142
scholar	rs727504142
google	rs727504142
pharmgkb	rs727504142
gwascentral	rs727504142
openSNP	rs727504142
23andMe	rs727504142
SNPshot	rs727504142
SNPdbe	rs727504142
MSV3d	rs727504142
GWAS Ctlg	rs727504142

Max Magnitude

0

ClinVar
Risk	rs727504142(C;C)
Alt	rs727504142(C;C)
Reference	Rs727504142(G;G)
Significance	Pathogenic
Disease	not specified Severe myoclonic epilepsy in infancy
Variation	info
Gene	SCN1A
CLNDBN	not specified Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166909357C>G
CLNSRC	Peking University
CLNACC	RCV000153902.3, RCV000180927.1,