rs1057519501

Orientation

plus

Stabilized

plus

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

Make rs1057519501(C;T)

Make rs1057519501(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127672093

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs1057519501
dbSNP (classic)	rs1057519501
ClinGen	rs1057519501
ebi	rs1057519501
HLI	rs1057519501
Exac	rs1057519501
Gnomad	rs1057519501
Varsome	rs1057519501
LitVar	rs1057519501
Map	rs1057519501
PheGenI	rs1057519501
Biobank	rs1057519501
1000 genomes	rs1057519501
hgdp	rs1057519501
ensembl	rs1057519501
geneview	rs1057519501
scholar	rs1057519501
google	rs1057519501
pharmgkb	rs1057519501
gwascentral	rs1057519501
openSNP	rs1057519501
23andMe	rs1057519501
SNPshot	rs1057519501
SNPdbe	rs1057519501
MSV3d	rs1057519501
GWAS Ctlg	rs1057519501

Max Magnitude

0

ClinVar
Risk	rs1057519501(T;T)
Alt	rs1057519501(T;T)
Reference	Rs1057519501(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 4
Variation	info
Gene	STXBP1
CLNDBN	Early infantile epileptic encephalopathy 4
Reversed	0
HGVS	NC_000009.11:g.130434372C>T
CLNSRC
CLNACC	RCV000416539.1,