rs796053366

Orientation

plus

Stabilized

plus

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

Make rs796053366(C;T)

Make rs796053366(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

127673250

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs796053366
dbSNP (classic)	rs796053366
ClinGen	rs796053366
ebi	rs796053366
HLI	rs796053366
Exac	rs796053366
Gnomad	rs796053366
Varsome	rs796053366
LitVar	rs796053366
Map	rs796053366
PheGenI	rs796053366
Biobank	rs796053366
1000 genomes	rs796053366
hgdp	rs796053366
ensembl	rs796053366
geneview	rs796053366
scholar	rs796053366
google	rs796053366
pharmgkb	rs796053366
gwascentral	rs796053366
openSNP	rs796053366
23andMe	rs796053366
SNPshot	rs796053366
SNPdbe	rs796053366
MSV3d	rs796053366
GWAS Ctlg	rs796053366

Max Magnitude

0

ClinVar
Risk	rs796053366(T;T)
Alt	rs796053366(T;T)
Reference	Rs796053366(C;C)
Significance	Pathogenic
Disease	not provided Epileptic encephalopathy Early infantile epileptic encephalopathy
Variation	info
Gene	STXBP1
CLNDBN	not provided Epileptic encephalopathy Early infantile epileptic encephalopathy
Reversed	0
HGVS	NC_000009.11:g.130435529C>T
CLNSRC
CLNACC	RCV000189611.2, RCV000416987.1, RCV000477371.1,