rs796053368

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	8	Early infantile epileptic encephalopathy, type 4

Make rs796053368(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

127678510

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs796053368
dbSNP (classic)	rs796053368
ClinGen	rs796053368
ebi	rs796053368
HLI	rs796053368
Exac	rs796053368
Gnomad	rs796053368
Varsome	rs796053368
LitVar	rs796053368
Map	rs796053368
PheGenI	rs796053368
Biobank	rs796053368
1000 genomes	rs796053368
hgdp	rs796053368
ensembl	rs796053368
geneview	rs796053368
scholar	rs796053368
google	rs796053368
pharmgkb	rs796053368
gwascentral	rs796053368
openSNP	rs796053368
23andMe	rs796053368
SNPshot	rs796053368
SNPdbe	rs796053368
MSV3d	rs796053368
GWAS Ctlg	rs796053368

Max Magnitude

8

ClinVar
Risk	rs796053368(T;T)
Alt	rs796053368(T;T)
Reference	Rs796053368(C;C)
Significance	Pathogenic
Disease	not provided Early infantile epileptic encephalopathy 4 Early infantile epileptic encephalopathy
Variation	info
Gene	STXBP1
CLNDBN	not provided Early infantile epileptic encephalopathy 4 Early infantile epileptic encephalopathy
Reversed	0
HGVS	NC_000009.11:g.130440789C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000189615.3, RCV000415832.1, RCV000471170.1,