rs796053367

Orientation

plus

Stabilized

plus

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

Make rs796053367(C;T)

Make rs796053367(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

127675909

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs796053367
dbSNP (classic)	rs796053367
ClinGen	rs796053367
ebi	rs796053367
HLI	rs796053367
Exac	rs796053367
Gnomad	rs796053367
Varsome	rs796053367
LitVar	rs796053367
Map	rs796053367
PheGenI	rs796053367
Biobank	rs796053367
1000 genomes	rs796053367
hgdp	rs796053367
ensembl	rs796053367
geneview	rs796053367
scholar	rs796053367
google	rs796053367
pharmgkb	rs796053367
gwascentral	rs796053367
openSNP	rs796053367
23andMe	rs796053367
SNPshot	rs796053367
SNPdbe	rs796053367
MSV3d	rs796053367
GWAS Ctlg	rs796053367

Max Magnitude

0

ClinVar
Risk	rs796053367(T;T)
Alt	rs796053367(T;T)
Reference	Rs796053367(C;C)
Significance	Pathogenic
Disease	not provided Epileptic encephalopathy
Variation	info
Gene	STXBP1
CLNDBN	not provided Epileptic encephalopathy
Reversed	0
HGVS	NC_000009.11:g.130438188C>T
CLNSRC
CLNACC	RCV000189614.2, RCV000417024.1,