rs727504136

Orientation

minus

Stabilized

minus

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

Make rs727504136(C;T)

Make rs727504136(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166012255

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs727504136
dbSNP (classic)	rs727504136
ClinGen	rs727504136
ebi	rs727504136
HLI	rs727504136
Exac	rs727504136
Gnomad	rs727504136
Varsome	rs727504136
LitVar	rs727504136
Map	rs727504136
PheGenI	rs727504136
Biobank	rs727504136
1000 genomes	rs727504136
hgdp	rs727504136
ensembl	rs727504136
geneview	rs727504136
scholar	rs727504136
google	rs727504136
pharmgkb	rs727504136
gwascentral	rs727504136
openSNP	rs727504136
23andMe	rs727504136
SNPshot	rs727504136
SNPdbe	rs727504136
MSV3d	rs727504136
GWAS Ctlg	rs727504136

Max Magnitude

0

ClinVar
Risk	rs727504136(T;T)
Alt	rs727504136(T;T)
Reference	Rs727504136(C;C)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus not provided
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 not provided
Reversed	1
HGVS	NC_000002.11:g.166868765G>A
CLNSRC	HGMD
CLNACC	RCV000153888.5, RCV000153889.3, RCV000188925.3,