rs794727792

Orientation

plus

Stabilized

plus

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

Make rs794727792(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

127661140

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs794727792
dbSNP (classic)	rs794727792
ClinGen	rs794727792
ebi	rs794727792
HLI	rs794727792
Exac	rs794727792
Gnomad	rs794727792
Varsome	rs794727792
LitVar	rs794727792
Map	rs794727792
PheGenI	rs794727792
Biobank	rs794727792
1000 genomes	rs794727792
hgdp	rs794727792
ensembl	rs794727792
geneview	rs794727792
scholar	rs794727792
google	rs794727792
pharmgkb	rs794727792
gwascentral	rs794727792
openSNP	rs794727792
23andMe	rs794727792
SNPshot	rs794727792
SNPdbe	rs794727792
MSV3d	rs794727792
GWAS Ctlg	rs794727792

Max Magnitude

8

ClinVar
Risk	rs794727792(T;T)
Alt	rs794727792(T;T)
Reference	Rs794727792(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 4 not provided
Variation	info
Gene	STXBP1
CLNDBN	Early infantile epileptic encephalopathy 4 not provided
Reversed	0
HGVS	NC_000009.11:g.130423419C>T
CLNSRC
CLNACC	RCV000179420.1, RCV000189595.2,