rs1057519532

Orientation

minus

Stabilized

minus

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

Make rs1057519532(-;-)

Make rs1057519532(-;TT)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

165994177

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs1057519532
dbSNP (classic)	rs1057519532
ClinGen	rs1057519532
ebi	rs1057519532
HLI	rs1057519532
Exac	rs1057519532
Gnomad	rs1057519532
Varsome	rs1057519532
LitVar	rs1057519532
Map	rs1057519532
PheGenI	rs1057519532
Biobank	rs1057519532
1000 genomes	rs1057519532
hgdp	rs1057519532
ensembl	rs1057519532
geneview	rs1057519532
scholar	rs1057519532
google	rs1057519532
pharmgkb	rs1057519532
gwascentral	rs1057519532
openSNP	rs1057519532
23andMe	rs1057519532
SNPshot	rs1057519532
SNPdbe	rs1057519532
MSV3d	rs1057519532
GWAS Ctlg	rs1057519532

Max Magnitude

0

ClinVar
Risk	rs1057519532(-;-)
Alt	rs1057519532(-;-)
Reference	Rs1057519532(TT;TT)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	Epileptic encephalopathy
Reversed	1
HGVS	NC_000002.11:g.166850687_166850688delAA
CLNSRC
CLNACC	RCV000416979.1,