rs796053361

Orientation

plus

Stabilized

plus

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

Make rs796053361(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

127668160

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs796053361
dbSNP (classic)	rs796053361
ClinGen	rs796053361
ebi	rs796053361
HLI	rs796053361
Exac	rs796053361
Gnomad	rs796053361
Varsome	rs796053361
LitVar	rs796053361
Map	rs796053361
PheGenI	rs796053361
Biobank	rs796053361
1000 genomes	rs796053361
hgdp	rs796053361
ensembl	rs796053361
geneview	rs796053361
scholar	rs796053361
google	rs796053361
pharmgkb	rs796053361
gwascentral	rs796053361
openSNP	rs796053361
23andMe	rs796053361
SNPshot	rs796053361
SNPdbe	rs796053361
MSV3d	rs796053361
GWAS Ctlg	rs796053361

Max Magnitude

8

ClinVar
Risk	rs796053361(A;A) rs796053361(T;T)
Alt	rs796053361(A;A) rs796053361(T;T)
Reference	Rs796053361(G;G)
Significance	Pathogenic
Disease	not provided Early infantile epileptic encephalopathy 4 Inborn genetic diseases
Variation	info
Gene	STXBP1
CLNDBN	not provided Early infantile epileptic encephalopathy 4 Inborn genetic diseases
Reversed	0
HGVS	NC_000009.11:g.130430439G>A; NC_000009.11:g.130430439G>T
CLNSRC
CLNACC	RCV000189606.3, RCV000416099.1, RCV000190701.1,