rs1057519537

Orientation

plus

Stabilized

plus

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

Make rs1057519537(A;A)

Make rs1057519537(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127682423

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs1057519537
dbSNP (classic)	rs1057519537
ClinGen	rs1057519537
ebi	rs1057519537
HLI	rs1057519537
Exac	rs1057519537
Gnomad	rs1057519537
Varsome	rs1057519537
LitVar	rs1057519537
Map	rs1057519537
PheGenI	rs1057519537
Biobank	rs1057519537
1000 genomes	rs1057519537
hgdp	rs1057519537
ensembl	rs1057519537
geneview	rs1057519537
scholar	rs1057519537
google	rs1057519537
pharmgkb	rs1057519537
gwascentral	rs1057519537
openSNP	rs1057519537
23andMe	rs1057519537
SNPshot	rs1057519537
SNPdbe	rs1057519537
MSV3d	rs1057519537
GWAS Ctlg	rs1057519537

Max Magnitude

0

ClinVar
Risk	rs1057519537(A;A)
Alt	rs1057519537(A;A)
Reference	Rs1057519537(G;G)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	STXBP1
CLNDBN	Epileptic encephalopathy
Reversed	0
HGVS	NC_000009.11:g.130444702G>A
CLNSRC
CLNACC	RCV000416996.1,