rs1057519538

Orientation

plus

Stabilized

plus

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

Make rs1057519538(-;-)

Make rs1057519538(-;AAA)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127651622

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs1057519538
dbSNP (classic)	rs1057519538
ClinGen	rs1057519538
ebi	rs1057519538
HLI	rs1057519538
Exac	rs1057519538
Gnomad	rs1057519538
Varsome	rs1057519538
LitVar	rs1057519538
Map	rs1057519538
PheGenI	rs1057519538
Biobank	rs1057519538
1000 genomes	rs1057519538
hgdp	rs1057519538
ensembl	rs1057519538
geneview	rs1057519538
scholar	rs1057519538
google	rs1057519538
pharmgkb	rs1057519538
gwascentral	rs1057519538
openSNP	rs1057519538
23andMe	rs1057519538
SNPshot	rs1057519538
SNPdbe	rs1057519538
MSV3d	rs1057519538
GWAS Ctlg	rs1057519538

Max Magnitude

0

ClinVar
Risk	rs1057519538(-;-)
Alt	rs1057519538(-;-)
Reference	Rs1057519538(AAA;AAA)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	STXBP1
CLNDBN	Epileptic encephalopathy
Reversed	0
HGVS	NC_000009.11:g.130413901_130413903delAAA
CLNSRC
CLNACC	RCV000417033.1,