rs1057519539

Orientation

plus

Stabilized

plus

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

Make rs1057519539(G;T)

Make rs1057519539(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127678479

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs1057519539
dbSNP (classic)	rs1057519539
ClinGen	rs1057519539
ebi	rs1057519539
HLI	rs1057519539
Exac	rs1057519539
Gnomad	rs1057519539
Varsome	rs1057519539
LitVar	rs1057519539
Map	rs1057519539
PheGenI	rs1057519539
Biobank	rs1057519539
1000 genomes	rs1057519539
hgdp	rs1057519539
ensembl	rs1057519539
geneview	rs1057519539
scholar	rs1057519539
google	rs1057519539
pharmgkb	rs1057519539
gwascentral	rs1057519539
openSNP	rs1057519539
23andMe	rs1057519539
SNPshot	rs1057519539
SNPdbe	rs1057519539
MSV3d	rs1057519539
GWAS Ctlg	rs1057519539

Max Magnitude

0

ClinVar
Risk	rs1057519539(T;T)
Alt	rs1057519539(T;T)
Reference	Rs1057519539(G;G)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	STXBP1
CLNDBN	Epileptic encephalopathy
Reversed	0
HGVS	NC_000009.11:g.130440758G>T
CLNSRC
CLNACC	RCV000416969.1,