rs786200989

Orientation

minus

Stabilized

minus

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

Make rs786200989(-;T)

Make rs786200989(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

166039591

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs786200989
dbSNP (classic)	rs786200989
ClinGen	rs786200989
ebi	rs786200989
HLI	rs786200989
Exac	rs786200989
Gnomad	rs786200989
Varsome	rs786200989
LitVar	rs786200989
Map	rs786200989
PheGenI	rs786200989
Biobank	rs786200989
1000 genomes	rs786200989
hgdp	rs786200989
ensembl	rs786200989
geneview	rs786200989
scholar	rs786200989
google	rs786200989
pharmgkb	rs786200989
gwascentral	rs786200989
openSNP	rs786200989
23andMe	rs786200989
SNPshot	rs786200989
SNPdbe	rs786200989
MSV3d	rs786200989
GWAS Ctlg	rs786200989

Max Magnitude

0

ClinVar
Risk	rs786200989(T;T)
Alt	rs786200989(T;T)
Reference	Rs786200989(-;-)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2
Reversed	1
HGVS	NC_000002.11:g.166896102dupA
CLNSRC
CLNACC	RCV000153897.2, RCV000153898.2,